GM23404
iPSC from Fibroblast
Description:
FRIEDREICH ATAXIA 1; FRDA
FRATAXIN; FXN
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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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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX[20]
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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 |
41 |
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| Induced Pluripotent Stem Cell |
The frozen cell line submitted to the Repository 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. Steady-state mRNA expression patterns of undifferentiated iPSC 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 |
iPS cell line made from GM03816; clinically affected; spinal-cerebral degeneration with myocardiopathy; a brother (GM04078/GM04079)is similarly affected; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 330 and 380 repeats. 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.. |
| Davide D, Federica C, Marco B, Elisa B, Silvia M, Giulia T, Federica D, Ottaviani D, Elena M, Luigi L, Elisa G, Elena Z, Antonella R, Milena B, Geppo S, Donatella C, Leonardo S, Paola C, Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain Cell death & disease14:805 2023 |
| PubMed ID: 38062036 |
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| Bolotta A, Abruzzo PM, Baldassarro VA, Ghezzo A, Scotlandi K, Marini M, Zucchini C, New Insights into the Hepcidin-Ferroportin Axis and Iron Homeostasis in iPSC-Derived Cardiomyocytes from Friedreich's Ataxia Patient Oxidative medicine and cellular longevity2019:7623023 2018 |
| PubMed ID: 31049138 |
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| Ku S, Soragni E, Campau E, Thomas EA, Altun G, Laurent LC, Loring JF, Napierala M, Gottesfeld JM, Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA·TTC triplet repeat instability Cell stem cell7:631-7 2009 |
| PubMed ID: 21040903 |
| Passage Frozen |
41 |
| Split Ratio |
1:8 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none |
| Substrate |
Matrigel |
| Supplement |
- |
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