ID   CSUASOi002-A
AC   CVCL_WU17
DR   hPSCreg; CSUASOi002-A
DR   Wikidata; Q93459759
RX   PubMed=31669782;
CC   From: Central South University, Aier School of Ophthalmology; Changsha; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 6938; CHST6; Simple; p.Leu21delinsArgfs (c.62_63delTinsGA); Zygosity=Heterozygous (PubMed=31669782).
CC   Sequence variation: Mutation; HGNC; 6938; CHST6; Simple; p.Gln298Ter (c.892C>T); ClinVar=VCV000320606; Zygosity=Heterozygous (PubMed=31669782).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C34793; Macular corneal dystrophy
DI   ORDO; Orphanet_98969; Macular corneal dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=31669782; DOI=10.1016/j.scr.2019.101598;
RA   Jing Y.-T., Zhou Y.-L., Wang C.-X., Liu J., Guo Y.-L., Mao S.-R.,
RA   Chan H.-F., Tang S.-B., Chen J.-S.;
RT   "Establishment of a non-integrate iPS cell line CSUASOi002-A, from
RT   urine-derived cells of a female patient with macular corneal dystrophy
RT   carrying compound heterozygous CHST6 mutations.";
RL   Stem Cell Res. 41:101598-101598(2019).
//