ID   HMSCATi004-A
AC   CVCL_C1PW
SY   LHK-PD
DR   BioSamples; SAMEA14088256
DR   hPSCreg; HMSCATi004-A
DR   Wikidata; Q114311629
RX   PubMed=39405989;
CC   From: Stem Cell Application and Translation Laboratory, Hebei Medical University; Shijiazhuang; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Arg275Trp (c.823C>T); ClinVar=VCV000007050; Zygosity=Heterozygous (PubMed=39405989).
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex2-4 del; Zygosity=Heterozygous (PubMed=39405989).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198603; Parkinson disease 2, autosomal recessive juvenile
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 4
//
RX   PubMed=39405989; DOI=10.1016/j.scr.2024.103578;
RA   Cheng J.-K., Zhai Y.-T., Guo X.-G., Wang X.-M., Ma M., Ren X., Wang S.,
RA   Cui H.-X., Ren Q.;
RT   "Generation of an induced pluripotent stem cell line (HMSCATi004-A)
RT   from an early onset Parkinson's disease patient with PRKN gene
RT   mutation.";
RL   Stem Cell Res. 81:103578-103578(2024).
//