Cellosaurus cell line HMSCATi004-A (CVCL

Cross-references
Cell line name	HMSCATi004-A
Synonyms	LHK-PD
Accession	CVCL_C1PW
Resource Identification Initiative	To cite this cell line use: HMSCATi004-A (RRID:CVCL_C1PW)
Comments	From: Stem Cell Application and Translation Laboratory, Hebei Medical University; Shijiazhuang; China. Population: Chinese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Arg275Trp (c.823C>T); ClinVar=VCV000007050; Zygosity=Heterozygous (PubMed=39405989). Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex2-4 del; Zygosity=Heterozygous (PubMed=39405989).
Disease	Parkinson disease 2, autosomal recessive juvenile (NCIt: C198603) Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	29Y
Category	Induced pluripotent stem cell
Publications	PubMed=39405989; DOI=10.1016/j.scr.2024.103578 Cheng J.-K., Zhai Y.-T., Guo X.-G., Wang X.-M., Ma M., Ren X., Wang S., Cui H.-X., Ren Q. Generation of an induced pluripotent stem cell line (HMSCATi004-A) from an early onset Parkinson's disease patient with PRKN gene mutation. Stem Cell Res. 81:103578-103578(2024)
Cell line databases/resources	hPSCreg; HMSCATi004-A
Biological sample resources	BioSamples; SAMEA14088256
Encyclopedic resources	Wikidata; Q114311629
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	4