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Cellosaurus FDHSi002-A (CVCL_D0EX)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; FDHSi002-A
Biological sample resources BioSamples; SAMEA114184886
Encyclopedic resources Wikidata; Q123031276
Entry history
Entry creation05-Oct-2023
Last entry update10-Sep-2024
Version number4