ID   OPCA-iPSC3
AC   CVCL_L663
SY   OPCA-iPS3
DR   Wikidata; Q54936463
RX   PubMed=22301348;
CC   From: Guangzhou Medical University; Guangzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:10560; ATXN7; Repeat_expansion; CAG[45] (g.53130CAG[(38_130)]); ClinVar=VCV000562100; Zygosity=Unspecified (PubMed=22301348).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126562; Spinocerebellar ataxia type 7
DI   ORDO; Orphanet_94147; Spinocerebellar ataxia type 7
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_L661 ! OPCA-iPSC1
OI   CVCL_L662 ! OPCA-iPSC2
SX   Female
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 06-05-13; Last updated: 19-12-24; Version: 15
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RX   PubMed=22301348; DOI=10.1620/tjem.226.151;
RA   Luo Y.-M., Fan Y., Zhou B.-R., Xu Z.-Q., Chen Y.-Y., Sun X.-F.;
RT   "Generation of induced pluripotent stem cells from skin fibroblasts of
RT   a patient with olivopontocerebellar atrophy.";
RL   Tohoku J. Exp. Med. 226:151-159(2012).
//