Available Cell Lines

Available Cell Lines

 

 
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Please address any questions regarding diagnosis to Dr. Leslie Gordon, c/o Susan Campbell, Cell and Tissue Bank Project Coordinator, at: Susan_Campbell@brown.edu.

FIBROBLAST CLASSIC MUTATION

FIBROBLAST NON-CLASSIC MUTATIONS

LYMPHOBLAST CLASSIC MUTATION

LYMPHOBLAST NON-CLASSIC MUTATIONS

INDUCED PLURIPOTENT STEM CELLS CLASSIC MUTATION

For publications listed by cell line inclusion, click here.

 Cell Lines Available

TABLE KEY
DF = Dermal Fibroblast
LBV=Lymphoblast
iPSC = Induced Pluripotent Stem Cell

FIBROBLAST CLASSIC MUTATION
Cell Line # Relation to Proband Age at Donation Gender Mutational Analysis Other Lines From This Donor
HGADFN003 Proband 2yrs 0mos Male LMNA Exon 11, heterozygous c.1824C>T (p.Gly608Gly) LBV HGALBV073
& iPSC lines
HGADFN122 Proband 5yrs 0mos Female LMNA Exon 11, heterozygous c.1824C>T (p.Gly608Gly) LBV HGALBV097
HGADFN127 Proband 3yrs 9mos Female LMNA Exon 11, heterozygous c.1824C>T (p.Gly608Gly) LBV HGALBV039
HGADFN143 Proband 8yrs 10mo Male LMNA Exon 11, heterozygous c.1824C>T (p.Gly608Gly) LBV  HGALBV011
HGADFN155 Proband 1yr 2mo Female LMNA Exon 11, heterozygous c.1824C>T (p.Gly608Gly)

 
HGADFN164 Proband 4yrs 8mos Female LMNA Exon 11, heterozygous c.1824C>T (p.Gly608Gly)

 
HGADFN167 Proband 8yrs 5mos Male LMNA Exon 11, heterozygous c.1824C>T (p.Gly608Gly) LBV HGALBV009
& iPSC lines
HGFDFN168 Father of HGADFN167 40yrs 5mo Male LMNA Exon 11,
Negative 		LBV HGFLBV021
& iPSC lines
HGMDFN090 Mother of HGADFN167 37yr 10mo Female LMNA Exon 11,
Negative 		LBV HGMLBV010
& iPSC lines
HGADFN169 Proband 8yrs 6mos Male LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGADFN178 Proband 6yrs 11mo Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly) LBV HGALBV110
HGADFN188 Proband 2yrs 3mos Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly) LBV  HGALBV152
HGADFN271 Proband 1yr 3mos Male LMNA Exon 11, heterozygous c.1824C>T (p.Gly608Gly)

 
HGADFN367 Proband 3yrs 0mos Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGMDFN368 Mother of HGADFN367 31yrs 7mo Female Not Performed

 
HGFDFN369 Father of HGADFN367 33yrs 9mo Male Not Performed

 
HGADFN370 Proband 10yrs 4mo Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGMDFN371 Mother of HGADFN370 45yrs 7mo Female Not Performed

 
HGFDFN372 Father of HGADFN370 44yrs 6mo Male Not Performed

 

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TABLE KEY
DF = Dermal Fibroblast
LBV=Lymphoblast
iPSC = Induced Pluripotent Stem Cell

FIBROBLAST NON-CLASSIC MUTATIONS

Cell Line # Relation to  Proband Age at Donation Gender Mutational Analysis Other Lines From This Donor
PSADFN086* *Cells grow poorly Proband 0yrs 7mos Male LMNA Exon 11,
c.1968+1 G>A 		LBV PSALBV083
PSADFN257 Proband 1yr 10mos Male LMNA Exon 1
c.1619 T>C (p.Met540Thr)

 
PSADFN325 Proband 6yrs 9mos Male LMNA Exon 11/Intron
11 junction, heterozygous c. 1968+5G>C

 
PSMDFN326 Mother of HGADFN325 36yr 10mo Female Not performed

 
PSFDFN327 Father of HGADFN325 36yrs 3mos Male Not performed

 
PSADFN328 Proband 12yrs 5mos Female LMNA Exon 11, heterozygous c.1822 G->A (p.Gly608Ser) LBV  PSALBV296
PSADFN345 Proband 3yrs 3mos Female LMNA Exon 11,
c.1968+1 G>A

 
PSMDFN346 Mother of PSADFN345 21yr 10mo Female LMNA Exon 11,
Negative

 
PSADFN386 Proband 11 mos Female LMNA Exon 11, heterozygous c.1968+2T>A

 
PSMDFN387 Mother of PSADFN386 36yrs 5mos Female Not performed

 
PSFDFN388 Father of PSADFN386 38yrs 1mo Male Not performed

 
PSADFN363 Proband 8 mos Male LMNA Exon 6, heterozygous
c.973G>A (p.Asp325Asn)

 
PSMDFN364 Mother of PSADFN363 36yr 10mo Female Not performed

 
PSFDFN365 Father of PSADFN363 44yrs 2mos Male Not performed

 
PSADNF317 Proband
(& sibling of PSADFN318) 		3yr 9mo Male ZMPste24 Exon 6, heterozygous c.743C>T(p.Pro248Leu); Exon 10, heterozygous c.1349G>A
(p.Trp450Stop)

 
PSADFN318 Proband
(& sibling of PSADFN317) 		5 mos Male ZMPste24 Exon 6, heterozygous c.743
C>T(p.Pro248Leu);
Exon 10, heterozygous c.1349G>A
(p.Trp450Stop)

 
PSFDFN319 Father of PSADFN317 & PSADFN318 39yrs 0mo Male Not performed  
PSMDFN320 Mother of PSADFN317 & PSADFN318 36yr 8mo Female Not Performed  
PSADFN373 Proband 5yr 9mos Male ZMPste24 Exon 10, homozygous
c.1274T>C (p.Leu425Pro) 		LBV PSALBV341
PSMDFN375 Mother of PSADFN373 32yrs 9mos Female ZMPste24 Exon 10, heterozygous c.1274T>C (p.Leu425Pro) LBV PSMLBV343
PSFDFN376 Father of PSADFN373 32yrs 6mos Male ZMPste24 Exon 10, heterozygous c.1274T>C (p.Leu425Pro) LBV PSFLBV344

 

 

 


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TABLE KEY
DF = Dermal Fibroblast
LBV=Lymphoblast
iPSC = Induced Pluripotent Stem Cell

LYMPHOBLAST CLASSIC MUTATION
Cell Line # Relation to Proband Age at Donation Gender Mutational Analysis Other Lines From This Donor
HGALBV009 Proband 5yrs 1mo Male LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly) DF  HGADFN167
& iPSC lines
HGMLBV010 Mother of HGALBV009 36yrs 11mos Female LMNA  Exon 11, Negative DF  HGMDFN090
& iPSC lines
HGFLBV021 Father of HGALBV009 37yrs 0mos Male LMNA Exon 11, Negative DF  HGFDFN168
& iPSC lines
HGALBV011 Proband 6yrs 1mo Male LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly) DF  HGADFN143
HGMLBV023 Mother of HGALBV011 33yrs 8mos Female LMNA Exon 11, Negative

 
HGFLBV031 Father of HGALBV011 36yrs 5mos Male LMNA Exon 11, Negative

 
HGALBV016 Proband 15yrs 7mos Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGMLBV017 Mother of HGALBV016 40yrs Female Not performed

 
HGSLBV019 Sibling of HGALBV016 19yrs 9mos Male Not performed

 
HGALBV039 Proband 3yrs 6mos Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly) DF  HGADFN127
HGALBV040 Proband 12yrs 6mos Male LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGMLBV041 Mother of HGALBV040 43yrs Female Not performed

 
HGFLBV042 Father of HGALBV040 38 yrs Male Not performed

 
HGALBV055 Proband 7 yrs 3 mos Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGMLBV065 Mother of HGALBV055 26 yrs 0mo Female LMNA Exon 11, Negative

 
HGALBV057 Proband 4yrs 4mos Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGMLBV066 Mother of HGALBV057 28yrs 2mos Female LMNA Exon 11, Negative

 
HGFLBV067 Father of HGALBV057 40yrs 8mos Male LMNA Exon 11, Negative

 
HGALBV071 Proband 15yrs 0mos Male LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGALBV073 Proband 2yrs 0mos Male LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly) DF HGADFN003
& iPSC lines
HGALBV074 Proband 10yrs 8mos Male LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGMLBV076 Mother of HGALBV074 42yrs 8mos Female Not performed

 
HGSLBV075 Sibling of HGALBV074 12yrs 6mos Female Not Performed

 
HGSLBV077 Sibling of HGALBV074 16yrs 10mos Male Not Performed

 
HGALBV097 Proband 2yrs 7mos Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly) DF  HGADFN122
HGMLBV098 Mother of HGALBV097 41yrs 6mos Female Not Performed

 
HGFLBV099 Father of HGALBV097 51yrs 6mos Male Not Performed

 
HGALBV110 Proband 5yrs 7mos Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly) DF  HGADFN178
HGALBV113 Proband 12yrs 2mos Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGALBV132 Proband 1yr 5mos Male LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGMLBV133 Mother of HGALBV132 24yrs 7mos Female LMNA Exon 11, Negative

 
HGFLBV134 Father of HGALBV132 27yrs 5mos Male LMNA Exon 11, Negative

 
HGALBV145 Proband 13yrs 0mos Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGALBV146 Proband 9yrs 2mos Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGALBV150 Proband 6yrs 0mos Male LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGALBV152 Proband 11mos Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly) DF  HGADFN188
HGALBV162 Proband 1yr 6mos Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)  

 
HGALBV172 Proband 7yrs 9mos Female LMNA Exon 11, c.1824C>T (p.Gly608Gly)

 
HGALBV186 Proband 1yr 0mos Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGALBV236 Proband 6yrs 1mo Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGALBV237 Proband 14yrs 1mo Male LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGALBV240 Proband 4yrs 2mos Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGALBV255 Proband 10mos Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGALBV304 Proband 12yrs 9mos Male LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGALBV314 Proband 2yrs 4mos Male LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGSLBV353 Sibling of HGALBV314 7mos Female LMNA Exon 11, Negative

 
HGSLBV359 Sibling of HGALBV314 7mos Male LMNA Exon 11, Negative

 
HGALBV331 Proband 10mos Male LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGALBV338 Proband 3yrs 4mos Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGALBV351 Proband 4mos Female LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGALBV378 Proband 6yrs 8mos Male LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 
HGALBV389 Proband 8yrs 5mos Male LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly)

 

 

 

 


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TABLE KEY
DF = Dermal Fibroblast
LBV=Lymphoblast
iPSC = Induced Pluripotent Stem Cell

LYMPHOBLAST NON-CLASSIC MUTATIONS

Cell Line # Relation to Proband Age at Donation Gender Mutational Analysis Other Lines From This Donor
PSALBV083 Proband 6 mos Male LMNA Exon 11, c.1968+1 G>A DF PSADFN086
PSFLBV084 Father of PSALBV083 31yr 9mo Male Not Performed

 
PSMLBV085 Mother of PSALBV083 32yr 2mo Female Not Performed

 
PSALBV199 Proband 11yrs 3mos Female LMNA Exon 11,  heterozygous c.1868 C>G (p.Thr623Ser)

 
PSMLBV238 Mother of PSALBV245 & PSALBV339 ~24 yrs Female LMNA Exon 9, heterozygous c.1579C>T(p.Arg527Cys)

 
PSFLBV239 Father of PSALBV245 & PSALBV339 ~25 yrs Male LMNA Exon 9, heterozygous c.1579C>T(p.Arg527Cys)

 
PSALBV245 Proband, sibling of PSALBV339(2 deceased siblings were homozygous for same mutation) 4 mos Male LMNA Exon 9, homozygous c.1579C>T(p.Arg527Cys)

 
PSALBV339 Sibling of PSALBV245(2 deceased siblings were homozygous for same mutation) 1 mo Female LMNA Exon 9, heterozygous c.1579C>T(p.Arg527Cys)

 
PSALBV229 Proband 5yr 9mo Female LMNA Exon 11,  heterozygous c.1822G>A (p.Gly608Ser)

 
PSALBV295 Proband 17yr 3mo Male LMNA Exon 1, heterozygous c.331G>A  (p.Glu111Lys)   Intron 6,1158-44 C>T

 
PSMLBV360 Mother of PSALBV295 46yr 1mo Female LMNA Exon 1, Negative Intron 6, heterozygous c.1158-44 C>T

 
PSFLBV361 Father of PSALBV295 49yr 8mo Male LMNA Exon 1 & Intron 6, Negative

 
PSALBV296 Proband 10yr 8mo Female LMNA Exon 11,  heterozygous c.1822G>A (p.Gly608Ser)

 
PSALBV379 Proband 5yrs 3mos Male LMNA Exon 11/Intron 11 junction,  heterozygous c.1968+1G>A

 
PSALBV341 Proband (and sibling of PSALBV342) 5yrs 2mo Male ZMPste24 Exon 10, homozygous c.1274T>C (p.Leu425Pro) DF PSADFN373
PSALBV342 Proband (and sibling of  PSALBV341)

2yrs 9mo

Male ZMPste24 Exon 10, homozygous c.1274T>C (p.Leu425Pro)

 
PSMLBV343 Mother of PSALBV341 & PSALBV342 32yr 2mo Female ZMPste24 Exon 10,  heterozygous c.1274T>C (p.Leu425Pro) DF PSMDFN375
PSFLBV344 Father of PSALBV341 & PSALBV342 32yrs Male ZMPste24 Exon 10,  heterozygous c.1274T>C (p.Leu425Pro) DF PSFDFN376

 

 

 


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TABLE KEY
DF = Dermal Fibroblast
LBV=Lymphoblast
iPSC = Induced Pluripotent Stem Cell

 

 

INDUCED PLURIPOTENT STEM CELLS CLASSIC MUTATION
Cell Line # Relation to Proband Age at Donation Gender Mutational
Analysis 		Other Lines From
This Donor
HGADFN003 iPS1B Proband 2yrs 0mos Male LMNA Exon 11, heterozygous c.1824C>T (p.Gly608Gly) DF  HGADFN003; LBV HGALBV073
HGADFN003 iPS1C Proband 2yrs 0mos Male LMNA Exon 11, heterozygous c.1824C>T (p.Gly608Gly) DF  HGADFN003; LBV HGALBV073
HGADFN003 iPS1D Proband 2yrs 0mos Male LMNA Exon 11, heterozygous c.1824C>T (p.Gly608Gly) DF  HGADFN003; LBV HGALBV073
HGADFN167 iPS1J Proband 8yrs 5mos Male LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly) DF  HGADFN167; LBV HGALBV009
HGADFN167 iPS1Q Proband 8yrs 5mos Male LMNA Exon 11,  heterozygous c.1824C>T (p.Gly608Gly) DF  HGADFN167; LBV HGALBV009
HGMDFN090 iPS1B Mother of HGADFN167 37yr 10mo Female LMNA Exon 11, Negative DF  HGMDFN090; LBV HGMLBV010
HGMDFN090 iPS1C Mother of HGADFN167 37yr 10mo Female LMNA Exon 11, Negative DF  HGMDFN090; LBV HGMLBV010
HGFDFN168 iPS1D2 Father of HGADFN167 40yrs 5mo Male LMNA Exon 11, Negative DF  HGFDFN168; LBV HGFLBV021
HGFDFN168 iPS1E Father of HGADFN167 40yrs 5mo Male LMNA Exon 11, Negative DF  HGFDFN168; LBV HGFLBV021

 


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