ID   IGIBi004-A
AC   CVCL_VN65
SY   SCA12_003
DR   hPSCreg; IGIBi004-A
DR   Wikidata; Q94314644
RX   PubMed=30130680;
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[65]; ClinVar=VCV000005614; Zygosity=Heterozygous; Note=The non-expanded allele has CAG[17] (PubMed=30130680).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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   49Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 9
//
RX   PubMed=30130680; DOI=10.1016/j.scr.2018.08.008;
RA   Kumar, Deepak
RA   Hussain, Ashaq
RA   Srivastava, Achal Kumar
RA   Mukerji, Mitali
RA   Mukherjee, Odity
RA   Faruq, Mohammed
RT   "Generation of three spinocerebellar ataxia type-12 patients derived
RT   induced pluripotent stem cell lines (IGIBi002-A, IGIBi003-A and
RT   IGIBi004-A).";
RL   Stem Cell Res. 31:216-221(2018).
//