ID   CGMHi002-A
AC   CVCL_WP73
SY   CGMH-iPSCs-PARK14-1
DR   hPSCreg; CGMHi002-A
DR   SKIP; SKIP005563
DR   Wikidata; Q93448049
RX   PubMed=31493761;
CC   From: Chang Gung Memorial Hospital, Lin-Kou Medical Centre, Chang Gung University; Tao-Yuan; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; HGNC:9039; PLA2G6; Simple; p.Asp331Tyr (c.991G>T); ClinVar=VCV000030371; Zygosity=Heterozygous (PubMed=31493761).
CC   Sequence variation: Mutation; HGNC; HGNC:9039; PLA2G6; Simple; p.Met358Ilefs*7 (c.1077G>A) (p.Ser359Ser); ClinVar=VCV000279875; Zygosity=Heterozygous; Note=Cryptic splice site mutation (PubMed=31493761).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C201519; Parkinson disease 14, autosomal recessive
DI   ORDO; Orphanet_199351; Adult-onset dystonia-parkinsonism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 11
//
RX   PubMed=31493761; DOI=10.1016/j.scr.2019.101552;
RA   Chiu, Ching-Chi
RA   Wang, Hung-Li
RA   Weng, Yi-Hsin
RA   Chen, Rou-Shayn
RA   Chen, Chiung-Mei
RA   Yeh, Tu-Hsueh
RA   Lu, Chin-Song
RA   Chen, Yu-Jie
RA   Liu, Yu-Chuan
RA   Huang, Ying-Zu
RA   Chang, Kuo-Hsuan
RT   "Generation of induced pluripotent stem cells from a young-onset
RT   Parkinson's disease patient carrying the compound heterozygous PLA2G6
RT   p.D331Y/p.M358IfsX mutations.";
RL   Stem Cell Res. 40:101552-101552(2019).
//