ID   WCHSCUi001-A
AC   CVCL_C1XJ
SY   WCHSCU-iPS-PD-CHCHD2-001
DR   hPSCreg; WCHSCUi001-A
DR   Wikidata; Q114313239
RX   PubMed=35944313;
CC   From: West China Hospital, Sichuan university; Chengdu; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 21645; CHCHD2; Simple; p.Pro53Alafs*38 (c.156_157insGCAG); Zygosity=Heterozygous (PubMed=35944313).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   36Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35944313; DOI=10.1016/j.scr.2022.102881;
RA   Jiang Z., Gu X.-J., Su W.-M., Duan Q.-Q., Lin J.-Y., Cao B.,
RA   Shang H.-F., Chen Y.-P.;
RT   "Production of a human iPSC line from an early-onset Parkinson's
RT   disease patient with a novel CHCHD2 gene truncated mutation.";
RL   Stem Cell Res. 64:102881-102881(2022).
//