Cellosaurus cell line IGIBi014-A (CVCL

Cross-references
Cell line name	IGIBi014-A
Synonyms	FA_hiPSC_003
Accession	CVCL_D4ZX
Resource Identification Initiative	To cite this cell line use: IGIBi014-A (RRID:CVCL_D4ZX)
Comments	From: Institute of Genomics and Integrative Biology (CSIR-IGIB); New Delhi; India. Population: Indian. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Omics: Array-based CGH. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[537]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=38141359). Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[1154]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=38141359).
Disease	Friedreich ataxia (NCIt: C84718) Friedreich ataxia (ORDO: Orphanet_95)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	25Y
Category	Induced pluripotent stem cell
Publications	PubMed=38141359; DOI=10.1016/j.scr.2023.103289 Ahmad I., Kapoor H., Srivastava A.K., Faruq M. Generation and characterization of two human iPSC lines, IGIBi014-A and IGIBi015-A, from Friedreich's ataxia (FRDA) patients with pathogenic (GAA/TTC)n repeat expansion in first intron of the frataxin (FXN) gene. Stem Cell Res. 74:103289-103289(2024)
Cell line databases/resources	hPSCreg; IGIBi014-A
Encyclopedic resources	Wikidata; Q127382330
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3