Cellosaurus cell line FDHSi002-A (CVCL

Cross-references
Cell line name	FDHSi002-A
Synonyms	FDITBRi002-A
Accession	CVCL_D0EX
Resource Identification Initiative	To cite this cell line use: FDHSi002-A (RRID:CVCL_D0EX)
Comments	From: Huashan Hospital of Fudan University; Shanghai; China. Population: Chinese; Han. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:21645; CHCHD2; Simple; p.Arg145Gln (c.434G>A); ClinVar=VCV000218883; Zygosity=Heterozygous (PubMed=38631182).
Disease	Parkinson disease 22, autosomal dominant (NCIt: C205643) Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	42Y
Category	Induced pluripotent stem cell
Publications	PubMed=38631182; DOI=10.1016/j.scr.2024.103419 Chen X.-N., Sun J., Wang T., Tang Q.-Y., Su L., Sun Y.-M., Chen L., Seo H.-M., Cheng T.-L., Wang J., Song B. Generation of a human iPSC line from a Parkinson's disease patient with a novel CHCHD2 mutation (p.R145Q). Stem Cell Res. 77:103419-103419(2024)
Cell line databases/resources	hPSCreg; FDHSi002-A
Biological sample resources	BioSamples; SAMEA114184886
Encyclopedic resources	Wikidata; Q123031276
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	5