Cellosaurus cell line LEIi006-A (CVCL

Cross-references
Cell line name	LEIi006-A
Synonyms	1004CRB1iPS6
Accession	CVCL_VN41
Resource Identification Initiative	To cite this cell line use: LEIi006-A (RRID:CVCL_VN41)
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:2343; CRB1; Simple; p.Tyr631Cys (c.1892A>G); ClinVar=VCV000636015; Zygosity=Heterozygous (PubMed=30092450). Mutation; HGNC; HGNC:2343; CRB1; Simple; p.Gly850Ser (c.2548G>A); ClinVar=VCV000565382; Zygosity=Heterozygous (PubMed=30092450).
Disease	Retinitis pigmentosa (NCIt: C85045) Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	51Y
Category	Induced pluripotent stem cell
Publications	PubMed=30092450; DOI=10.1016/j.scr.2018.08.001 Zhang X., Zhang D., Chen S.-C., Lamey T.M., Thompson J.A., McLaren T.L., De Roach J.N., Chen F.K., McLenachan S. Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation. Stem Cell Res. 31:147-151(2018)
Cell line databases/resources	hPSCreg; LEIi006-A
Biological sample resources	BioSamples; SAMEA4760627
Encyclopedic resources	Wikidata; Q95982054
Entry history
Entry creation	07-Sep-2018
Last entry update	19-Dec-2024
Version number	10