ID   FDHSi002-A
AC   CVCL_D0EX
SY   FDITBRi002-A
DR   BioSamples; SAMEA114184886
DR   hPSCreg; FDHSi002-A
DR   Wikidata; Q123031276
RX   PubMed=38631182;
CC   From: Huashan Hospital of Fudan University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 21645; CHCHD2; Simple; p.Arg145Gln (c.434G>A); ClinVar=VCV000218883; Zygosity=Heterozygous (PubMed=38631182).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
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RX   PubMed=38631182; DOI=10.1016/j.scr.2024.103419;
RA   Chen X.-N., Sun J., Wang T., Tang Q.-Y., Su L., Sun Y.-M., Chen L.,
RA   Seo H.-M., Cheng T.-L., Wang J., Song B.;
RT   "Generation of a human iPSC line from a Parkinson's disease patient
RT   with a novel CHCHD2 mutation (p.R145Q).";
RL   Stem Cell Res. 77:103419-103419(2024).
//