ID   MUi032-A
AC   CVCL_B7E4
DR   BioSamples; SAMEA111372278
DR   hPSCreg; MUi032-A
DR   Wikidata; Q112930141
RX   PubMed=36395688;
CC   From: Mahidol University; Bangkok; Thailand.
CC   Population: Southeast Asian; Thai.
CC   Sequence variation: Mutation; HGNC; 1940; CHM; Simple; p.Arg293Ter (c.877C>T); ClinVar=VCV000011154; Zygosity=Hemizygous (PubMed=36395688).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34469; Choroideremia
DI   ORDO; Orphanet_180; Choroideremia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   60Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 30-01-24; Version: 6
//
RX   PubMed=36395688; DOI=10.1016/j.scr.2022.102964;
RA   Pongpaksupasin P., Wongkummool W., Tong-Ngam P.,
RA   Jearawiriyapaisarn N., Paiboonsukwong K., Sangkitporn S.,
RA   Trinavarat A., Atchaneeyasakul L.-O., Tubsuwan A.;
RT   "A generation of human-induced pluripotent stem cell line (MUi032-A)
RT   from a choroideremia disease patient carrying a hemizygous mutation
RT   on the CHM gene.";
RL   Stem Cell Res. 65:102964-102964(2022).
//