Cellosaurus cell line IGIBi016-A (CVCL

Cellosaurus IGIBi016-A (CVCL_D5A4)

Cross-references
Cell line name	IGIBi016-A
Synonyms	FA-hiPSC_005
Accession	CVCL_D5A4
Resource Identification Initiative	To cite this cell line use: IGIBi016-A (RRID:CVCL_D5A4)
Comments	From: Institute of Genomics and Integrative Biology (CSIR-IGIB); New Delhi; India. Population: Indian. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). 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=38484450). Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[1170]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=38484450).
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	26Y
Category	Induced pluripotent stem cell
Publications	PubMed=38484450; DOI=10.1016/j.scr.2024.103382 Ahmad I., Kamai A., Zahra S., Kapoor H., Srivastava A.K., Faruq M. Generation and characterization of iPSC lines from Friedreich's ataxia patient (FRDA) with GAA.TTC repeat expansion in the frataxin (FXN) gene's first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A). Stem Cell Res. 77:103382-103382(2024)
Cell line databases/resources	hPSCreg; IGIBi016-A
Biological sample resources	BioSamples; SAMEA115296842
Encyclopedic resources	Wikidata; Q127382332
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3