Cellosaurus cell line LEIi018-A (CVCL

Cellosaurus LEIi018-A (CVCL_A8MK)

Cross-references
Cell line name	LEIi018-A
Synonyms	1607ips6
Accession	CVCL_A8MK
Resource Identification Initiative	To cite this cell line use: LEIi018-A (RRID:CVCL_A8MK)
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:34; ABCA4; Simple; c.5461-10T>C; ClinVar=VCV000092870; Zygosity=Heterozygous (PubMed=34214897). Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Asn1868Ile (c.5603A>T); ClinVar=VCV000099390; Zygosity=Heterozygous (PubMed=34214897). Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Leu2026Pro (c.6077T>C); ClinVar=VCV000236144; Zygosity=Heterozygous (PubMed=34214897).
Disease	Stargardt disease (NCIt: C85078) Stargardt disease (ORDO: Orphanet_827)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	21Y
Category	Induced pluripotent stem cell
Publications	PubMed=34214897; DOI=10.1016/j.scr.2021.102439 Huang D., Zhang D., Chen S.-C., Thandar Aung-Htut M., Lamey T.M., Thompson J.A., McLaren T.L., De Roach J.N., Fletcher S., Wilton S.D., McLenachan S., Chen F.K. Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene. Stem Cell Res. 54:102439-102439(2021)
Cell line databases/resources	hPSCreg; LEIi018-A
Encyclopedic resources	Wikidata; Q108820786
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6