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Cellosaurus LEIi014-C (CVCL_A4CS)

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Cell line name LEIi014-C
Synonyms 1012ips11
Accession CVCL_A4CS
Resource Identification Initiative To cite this cell line use: LEIi014-C (RRID:CVCL_A4CS)
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=33360097).
  • Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Cys419Phe (c.1256G>T); ClinVar=VCV000002359; Zygosity=Heterozygous (PubMed=33360097).
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_A4CQ ! LEIi014-A
CVCL_A4CR ! LEIi014-B
Sex of cell Female
Age at sampling 15Y
Category Induced pluripotent stem cell
Publications

PubMed=33360097; DOI=10.1016/j.scr.2020.102129
Khine Zaw, Elaine Y.-M. Wong, Xiao Zhang, Dan Zhang, Shang-Chih Chen, Jennifer A. Thompson, Tina M. Lamey, Terri L. McLaren, John N. De Roach, Stephen Donald Wilton, Susan Fletcher ...Show all 15 authors... , Chalermchai Mitrpant, Marcus D. Atlas, Fred K. Chen, Samuel McLenachan; Show fewer authors
Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene.
Stem Cell Res. 50:102129-102129(2021)

Cross-references
Cell line databases/resources hPSCreg; LEIi014-C
Encyclopedic resources Wikidata; Q105509875
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6