ID   IGIBi011-A
AC   CVCL_D5AE
SY   SCA12_004 (CAG-09/58); GOC-13
DR   BioSamples; SAMEA115077150
DR   hPSCreg; IGIBi011-A
DR   Wikidata; Q127382327
RX   PubMed=38340452;
CC   From: Institute of Genomics and Integrative Biology (CSIR-IGIB); New Delhi; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:9305; PPP2R2B; Repeat_expansion; CAG[58]; ClinVar=VCV000005614; Zygosity=Heterozygous; Note=The non-expanded allele has CAG[9] (PubMed=38340452).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: Variations; Array-based CGH.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C154316; Spinocerebellar ataxia type 12
DI   ORDO; Orphanet_98762; Spinocerebellar ataxia type 12
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-04-25; Version: 4
//
RX   PubMed=38340452; DOI=10.1016/j.scr.2024.103319;
RA   Zahra, Sana
RA   Kapoor, Himanshi
RA   Ahmad, Istaq
RA   Kamai, Asangla
RA   Srivastava, Achal Kumar
RA   Faruq, Mohammed
RT   "Generation of an induced pluripotent stem cell (iPSC) line
RT   (IGIBi011-A) from a spinocerebellar ataxia type 12 gait dominant
RT   patient.";
RL   Stem Cell Res. 76:103319-103319(2024).
//