Cellosaurus cell line LEIi016-A (CVCL

Cross-references
Cell line name	LEIi016-A
Synonyms	1418ips3
Accession	CVCL_A8MG
Resource Identification Initiative	To cite this cell line use: LEIi016-A (RRID:CVCL_A8MG)
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.Ile852Thr (c.2555T>C); ClinVar=VCV000099883; Zygosity=Heterozygous (PubMed=34034222). Mutation; HGNC; HGNC:2343; CRB1; Simple; p.Asp1005Val (c.3014A>T); ClinVar=VCV000846589; Zygosity=Heterozygous (PubMed=34034222).
Disease	Retinitis pigmentosa (NCIt: C85045) Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_A8MH ! LEIi016-B
Sex of cell	Male
Age at sampling	11Y
Category	Induced pluripotent stem cell
Publications	PubMed=34034222; DOI=10.1016/j.scr.2021.102403 Moon S.Y., Zhang D., Chen S.-C., Lamey T.M., Thompson J.A., McLaren T.L., De Roach J.N., Chen F.K., McLenachan S. Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1. Stem Cell Res. 54:102403-102403(2021)
Cell line databases/resources	hPSCreg; LEIi016-A
Encyclopedic resources	Wikidata; Q108820782
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6