ID   MUi038-A
AC   CVCL_E4E2
SY   EYS mutation
DR   BioSamples; SAMEA115419503
DR   hPSCreg; MUi038-A
RX   PubMed=38810502;
CC   From: Mahidol University; Bangkok; Thailand.
CC   Population: Southeast Asian; Thai.
CC   Sequence variation: Mutation; HGNC; HGNC:21555; EYS; Simple; p.Cys2139Tyr (c.6416G>A); ClinVar=VCV000189230; Zygosity=Heterozygous (PubMed=38810502).
CC   Sequence variation: Mutation; HGNC; HGNC:21555; EYS; Simple; p.Ala2410Aspfs*3 (c.7228+1G>A); ClinVar=VCV000658881; Zygosity=Heterozygous (PubMed=38810502).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=38810502; DOI=10.1016/j.scr.2024.103448;
RA   Pongpaksupasin P., Tong-Ngam P., Jearawiriyapaisarn N.,
RA   Paiboonsukwong K., Sangkitporn S., Trinavarat A., Tubsuwan A.,
RA   Atchaneeyasakul L.-O.;
RT   "Generation of an EYS-associated retinitis pigmentosa patient-derived
RT   human pluripotent stem cell line (MUi038-A).";
RL   Stem Cell Res. 78:103448-103448(2024).
//