GM23913
iPSC from Fibroblast
Description:
FRIEDREICH ATAXIA 1; FRDA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Protocols |
Protocol PDF |
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Biopsy Source
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Skin
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Transformant
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Reprogrammed (Retroviral)
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Sample Source
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iPSC from Fibroblast
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Race
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White
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Family Member
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2
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Family History
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N
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Relation to Proband
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brother
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Confirmation
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Molecular characterization after cell line submission to CCR
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ISCN
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46,XY[24].arr[hg19] 2q31.2(178,144,857-178,355,529)x1,11q14.1q14.2(85,236,331-85,934,472)x1,18q21.32(57,230,183-58,885,314)x1,Xq21.31(88,910,447-89,944,834)x2
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
42 |
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| Induced Pluripotent Stem Cell |
The cell line submitted to the Repository frozen was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and the PluriTest. Steady-state mRNA expression patterns of undifferentiated iPSCs and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis. |
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| Gene |
FXN |
| Chromosomal Location |
9q13-q21.1 |
| Allelic Variant 1 |
606829.0001; FRIEDREICH ATAXIA |
| Identified Mutation |
(GAA)n EXPANSION; GAA triplet repeat expansions between 200 and 900 copies in the first intron of the frataxin gene occurred in 71 out of 74 FRDA patients studied by Campuzano et al. [Science 271: 1423-1427 (1996)]. In unaffected individuals the triplet expansion numbered between 7 and 20 units. |
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| Gene |
FXN |
| Chromosomal Location |
9q13-q21.1 |
| Allelic Variant 2 |
606829.0001; FRIEDREICH ATAXIA |
| Identified Mutation |
(GAA)n EXPANSION; GAA triplet repeat expansions between 200 and 900 copies in the first intron of the frataxin gene occurred in 71 out of 74 FRDA patients studied by Campuzano et al. [Science 271: 1423-1427 (1996)]. In unaffected individuals the triplet expansion numbered between 7 and 20 units. |
| Remarks |
Clinically affected; ataxia; cardiomyopathy; mild peripheral neuropathy; proband is GM03816; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 541 and 420 repeats; Array: A 211kb deletion(del) @2q11.3 (includes an autosomal Recessive disease gene AGPS);700kb del @11q14 (TMEM126A, AR); a 1.7Mb del @18q21 (CCBE1, AR); and >1Mb duplication at Xq21.31 reported due to its size but no OMIM genes; parent fibroblast is GM04078; see GM04079 lymphocyte. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is iPS Academia Japan, Inc.. |
| Mishra P, Sivakumar A, Johnson A, Pernaci C, Warden AS, El-Hachem LR, Hansen E, Badell-Grau RA, Khare V, Ramirez G, Gillette S, Solis AB, Guo P, Coufal N, Cherqui S, Gene editing improves endoplasmic reticulum-mitochondrial contacts and unfolded protein response in Friedreich's ataxia iPSC-derived neurons Frontiers in pharmacology15:1323491 2024 |
| PubMed ID: 38420191 |
| Passage Frozen |
42 |
| Split Ratio |
4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Ham's F12 Medium/Dulbecco Modified Eagles Medium, 1:1 mixture with 2mM L-glutamine or equivalent |
| Serum |
20% Knock-out Serum Replacement Not inactivated |
| Substrate |
Gelatin + Feeder Layer |
| Supplement |
Basic Fibroblast Growth Factor 10ng/ml |
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