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Cellosaurus IGIBi004-A (CVCL_VN65)

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Cell line name IGIBi004-A
Synonyms SCA12_003
Accession CVCL_VN65
Resource Identification Initiative To cite this cell line use: IGIBi004-A (RRID:CVCL_VN65)
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:9305; PPP2R2B; Repeat_expansion; CAG[65]; ClinVar=VCV000005614; Zygosity=Heterozygous; Note=The non-expanded allele has CAG[17] (PubMed=30130680).
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 49Y
Category Induced pluripotent stem cell
Publications

PubMed=30130680; DOI=10.1016/j.scr.2018.08.008
Deepak Kumar, Ashaq Hussain, Achal Kumar Srivastava, Mitali Mukerji, Odity Mukherjee, Mohammed Faruq;
Generation of three spinocerebellar ataxia type-12 patients derived induced pluripotent stem cell lines (IGIBi002-A, IGIBi003-A and IGIBi004-A).
Stem Cell Res. 31:216-221(2018)

Cross-references
Cell line databases/resources hPSCreg; IGIBi004-A
Encyclopedic resources Wikidata; Q94314644
Entry history
Entry creation07-Sep-2018
Last entry update19-Dec-2024
Version number9