Cellosaurus cell line SHEHDNi002-A (CVCL

Cross-references
Cell line name	SHEHDNi002-A
Synonyms	KY03AP
Accession	CVCL_A3BX
Resource Identification Initiative	To cite this cell line use: SHEHDNi002-A (RRID:CVCL_A3BX)
Comments	From: Department of Neurology, Shanghai East Hospital; Shanghai; China. Population: Chinese; Han. Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:15469; DNAJC6; Simple; p.Asn526Ser (c.1577A>G); ClinVar=VCV000706821; Zygosity=Heterozygous (PubMed=38219303). Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2385Arg (c.7153G>A); ClinVar=VCV000001943; Zygosity=Heterozygous (PubMed=38219303).
Disease	Parkinson disease 8, autosomal dominant (NCIt: C198605) Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	68Y
Category	Induced pluripotent stem cell
Publications	PubMed=38219303; DOI=10.1016/j.scr.2023.103297 Liu H., Zhao Z.-B., Zhao J., Xu L.-R., Li J.-S., Zhang B. Derivation of induced pluripotent stem cell SHEHDNi002-A from a 68-year-old Chinese Han Parkinson's disease patient carrying LRRK2 and DNAJC6 mutations. Stem Cell Res. 75:103297-103297(2024)
Cell line databases/resources	hPSCreg; SHEHDNi002-A
Biological sample resources	BioSamples; SAMEA7895017
Encyclopedic resources	Wikidata; Q105511072
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	7