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Cellosaurus CSUASOi002-A (CVCL_WU17)

[Text version]

Cell line name CSUASOi002-A
Accession CVCL_WU17
Resource Identification Initiative To cite this cell line use: CSUASOi002-A (RRID:CVCL_WU17)
Comments From: Central South University, Aier School of Ophthalmology; Changsha; China.
Population: Chinese.
Derived from sampling site: Urine.
Sequence variations
  • Mutation; HGNC; 6938; CHST6; Simple; p.Leu21delinsArgfs (c.62_63delTinsGA); Zygosity=Heterozygous (PubMed=31669782).
  • Mutation; HGNC; 6938; CHST6; Simple; p.Gln298Ter (c.892C>T); ClinVar=VCV000320606; Zygosity=Heterozygous (PubMed=31669782).
Disease Macular corneal dystrophy (NCIt: C34793)
Macular corneal dystrophy (ORDO: Orphanet_98969)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 51Y
Category Induced pluripotent stem cell
Publications

PubMed=31669782; DOI=10.1016/j.scr.2019.101598
Jing Y.-T., Zhou Y.-L., Wang C.-X., Liu J., Guo Y.-L., Mao S.-R., Chan H.-F., Tang S.-B., Chen J.-S.
Establishment of a non-integrate iPS cell line CSUASOi002-A, from urine-derived cells of a female patient with macular corneal dystrophy carrying compound heterozygous CHST6 mutations.
Stem Cell Res. 41:101598-101598(2019)

Cross-references
Cell line databases/resources hPSCreg; CSUASOi002-A
Encyclopedic resources Wikidata; Q93459759
Entry history
Entry creation05-Jul-2019
Last entry update20-May-2021
Version number7