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Cellosaurus LEIi010-A (CVCL_WJ43)

[Text version]
Cell line name LEIi010-A
Synonyms 1011ips1
Accession CVCL_WJ43
Resource Identification Initiative To cite this cell line use: LEIi010-A (RRID:CVCL_WJ43)
Comments From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Tyr318Cysfs*17 (c.949C>A); Zygosity=Heterozygous (PubMed=30904819).
  • Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Cys419Phe (c.1256G>T); ClinVar=VCV000002359; Zygosity=Heterozygous (PubMed=30904819).
Disease Usher syndrome type 2 (NCIt: C126328)
Usher syndrome type 2 (ORDO: Orphanet_231178)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_WJ44 ! LEIi010-B
Sex of cell Female
Age at sampling 18Y
Category Induced pluripotent stem cell
Publications

PubMed=30904819; DOI=10.1016/j.scr.2019.101420
McLenachan S., Wong E.Y.-M., Zhang X., Leith F., Moon S.Y., Zhang D., Chen S.-C., Thompson J.A., McLaren T.L., Lamey T.M., De Roach J.N., Atlas M.D., Dilley R.J., Chen F.K.
Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene.
Stem Cell Res. 36:101420-101420(2019)

Cross-references
Cell line databases/resources hPSCreg; LEIi010-A
Encyclopedic resources Wikidata; Q95982058
Entry history
Entry creation24-May-2019
Last entry update19-Dec-2024
Version number10