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Cellosaurus IGIBi012-A (CVCL_D5A2)

[Text version]
Cell line name IGIBi012-A
Synonyms FA-hiPSC_001
Accession CVCL_D5A2
Resource Identification Initiative To cite this cell line use: IGIBi012-A (RRID:CVCL_D5A2)
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; 3951; FXN; Repeat_expansion; IVS1 GAA[704]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=38367363).
  • Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[1204]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=38367363).
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 32Y
Category Induced pluripotent stem cell
Publications

PubMed=38367363; DOI=10.1016/j.scr.2024.103340
Ahmad I., Kapoor H., Srivastava A.K., Faruq M.
Generation of two human induced pluripotent stem cell lines, IGIBi012-A and IGIBi013-A from Friedreich's ataxia (FRDA) patients with homozygous GAA repeat expansion in FXN gene.
Stem Cell Res. 76:103340-103340(2024)

Cross-references
Cell line databases/resources hPSCreg; IGIBi012-A
Biological sample resources BioSamples; SAMEA115068259
Entry history
Entry creation02-May-2024
Last entry update02-May-2024
Version number1