Cellosaurus cell line MUi032-A (CVCL

Cross-references
Cell line name	MUi032-A
Accession	CVCL_B7E4
Resource Identification Initiative	To cite this cell line use: MUi032-A (RRID:CVCL_B7E4)
Comments	From: Mahidol University; Bangkok; Thailand. Population: Southeast Asian; Thai. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:1940; CHM; Simple; p.Arg293Ter (c.877C>T); ClinVar=VCV000011154; Zygosity=Hemizygous (PubMed=36395688).
Disease	Choroideremia (NCIt: C34469) Choroideremia (ORDO: Orphanet_180)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	60Y
Category	Induced pluripotent stem cell
Publications	PubMed=36395688; DOI=10.1016/j.scr.2022.102964 Pongpaksupasin P., Wongkummool W., Tong-Ngam P., Jearawiriyapaisarn N., Paiboonsukwong K., Sangkitporn S., Trinavarat A., Atchaneeyasakul L.-O., Tubsuwan A. A generation of human-induced pluripotent stem cell line (MUi032-A) from a choroideremia disease patient carrying a hemizygous mutation on the CHM gene. Stem Cell Res. 65:102964-102964(2022)
Cell line databases/resources	hPSCreg; MUi032-A
Biological sample resources	BioSamples; SAMEA111372278
Encyclopedic resources	Wikidata; Q112930141
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	7