ID   PUMCHi017-A
AC   CVCL_B5S7
SY   SRF-CHM01
DR   hPSCreg; PUMCHi017-A
DR   Wikidata; Q112041630
RX   PubMed=35032821;
CC   From: Peking Union Medical College Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 1940; CHM; Unexplicit; Ex1-2del; Zygosity=Hemizygous (PubMed=35032821).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C34469; Choroideremia
DI   ORDO; Orphanet_180; Choroideremia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35032821; DOI=10.1016/j.scr.2022.102661;
RA   Han X.-X., Wu S.-J., Sun Z.-X., Zhu T., Wei X., Zou X., Sui R.-F.;
RT   "Generation of a human induced pluripotent stem cell line PUMCHi017-A
RT   from a choroideremia patient with CHM mutation.";
RL   Stem Cell Res. 59:102661-102661(2022).
//