Cellosaurus cell line MUi038-A (CVCL

Cross-references
Cell line name	MUi038-A
Synonyms	EYS mutation
Accession	CVCL_E4E2
Resource Identification Initiative	To cite this cell line use: MUi038-A (RRID:CVCL_E4E2)
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:21555; EYS; Simple; p.Cys2139Tyr (c.6416G>A); ClinVar=VCV000189230; Zygosity=Heterozygous (PubMed=38810502). Mutation; HGNC; HGNC:21555; EYS; Simple; p.Ala2410Aspfs*3 (c.7228+1G>A); ClinVar=VCV000658881; Zygosity=Heterozygous (PubMed=38810502).
Disease	Retinitis pigmentosa (NCIt: C85045) Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	38Y
Category	Induced pluripotent stem cell
Publications	PubMed=38810502; DOI=10.1016/j.scr.2024.103448 Phitchapa Pongpaksupasin, Pirut Tong-Ngam, Natee Jearawiriyapaisarn, Kittiphong Paiboonsukwong, Siripakorn Sangkitporn, Adisak Trinavarat, Alisa Tubsuwan, La-Ongsri Atchaneeyasakul; Generation of an EYS-associated retinitis pigmentosa patient-derived human pluripotent stem cell line (MUi038-A). Stem Cell Res. 78:103448-103448(2024)
Cell line databases/resources	hPSCreg; MUi038-A
Biological sample resources	BioSamples; SAMEA115419503
Entry history
Entry creation	19-Dec-2024
Last entry update	19-Dec-2024
Version number	1