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Cellosaurus IGIBi011-A (CVCL_D5AE)

[Text version]
Cell line name IGIBi011-A
Synonyms SCA12_004 (CAG-09/58); GOC-13
Accession CVCL_D5AE
Resource Identification Initiative To cite this cell line use: IGIBi011-A (RRID:CVCL_D5AE)
Comments From: Institute of Genomics and Integrative Biology (CSIR-IGIB); New Delhi; India.
Population: Indian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: Variations; Array-based CGH.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9305; PPP2R2B; Repeat_expansion; CAG[58]; ClinVar=VCV000005614; Zygosity=Heterozygous; Note=The non-expanded allele has CAG[9] (PubMed=38340452).
Disease Spinocerebellar ataxia type 12 (NCIt: C154316)
Spinocerebellar ataxia type 12 (ORDO: Orphanet_98762)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 56Y
Category Induced pluripotent stem cell
Publications

PubMed=38340452; DOI=10.1016/j.scr.2024.103319
Sana Zahra, Himanshi Kapoor, Istaq Ahmad, Asangla Kamai, Achal Kumar Srivastava, Mohammed Faruq;
Generation of an induced pluripotent stem cell (iPSC) line (IGIBi011-A) from a spinocerebellar ataxia type 12 gait dominant patient.
Stem Cell Res. 76:103319-103319(2024)

Cross-references
Cell line databases/resources hPSCreg; IGIBi011-A
Biological sample resources BioSamples; SAMEA115077150
Encyclopedic resources Wikidata; Q127382327
Entry history
Entry creation02-May-2024
Last entry update10-Apr-2025
Version number4