ID   IGIBi015-A
AC   CVCL_D4ZY
SY   FA_hiPSC_004
DR   hPSCreg; IGIBi015-A
DR   Wikidata; Q127382331
RX   PubMed=38141359;
CC   From: Institute of Genomics and Integrative Biology (CSIR-IGIB); New Delhi; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[670]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=38141359).
CC   Sequence variation: Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[1037]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=38141359).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: Array-based CGH.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84718; Friedreich ataxia
DI   ORDO; Orphanet_95; Friedreich ataxia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38141359; DOI=10.1016/j.scr.2023.103289;
RA   Ahmad I., Kapoor H., Srivastava A.K., Faruq M.;
RT   "Generation and characterization of two human iPSC lines, IGIBi014-A
RT   and IGIBi015-A, from Friedreich's ataxia (FRDA) patients with
RT   pathogenic (GAA/TTC)n repeat expansion in first intron of the
RT   frataxin (FXN) gene.";
RL   Stem Cell Res. 74:103289-103289(2024).
//