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Cellosaurus LEIi009-A (CVCL_UK24)

[Text version]
Cell line name LEIi009-A
Synonyms 1374ips1; 1374IPSC_1P10
Accession CVCL_UK24
Resource Identification Initiative To cite this cell line use: LEIi009-A (RRID:CVCL_UK24)
Comments From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
Population: Aboriginal Australian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 15446; PRPF31; Simple; p.Ser402Ter (c.1205C>A); ClinVar=VCV002419172; Zygosity=Heterozygous (PubMed=30611018).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 54Y
Category Induced pluripotent stem cell
Publications

PubMed=30611018; DOI=10.1016/j.scr.2018.11.018
McLenachan S., Zhang D., Zhang X., Chen S.-C., Lamey T.M., Thompson J.A., McLaren T.L., De Roach J.N., Fletcher S., Chen F.K.
Generation of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier.
Stem Cell Res. 34:101357-101357(2019)

Cross-references
Cell line databases/resources hPSCreg; LEIi009-A
Encyclopedic resources Wikidata; Q95982057
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number7