Cellosaurus cell line LEIi008-A (CVCL

Cross-references
Cell line name	LEIi008-A
Synonyms	1093ips4; 1093IPSC_4P4
Accession	CVCL_UK23
Resource Identification Initiative	To cite this cell line use: LEIi008-A (RRID:CVCL_UK23)
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).
Disease	Retinitis pigmentosa (NCIt: C85045) Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	28Y
Category	Induced pluripotent stem cell
Publications	PubMed=30611018; DOI=10.1016/j.scr.2018.11.018 Samuel McLenachan, Dan Zhang, Xiao Zhang, Shang-Chih Chen, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Susan Fletcher, Fred K. Chen; 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; LEIi008-A
Encyclopedic resources	Wikidata; Q95982056
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	9