Cellosaurus cell line LEIi009-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; LEIi009-A
Encyclopedic resources	Wikidata; Q95982057
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	8