Cellosaurus cell line LEIi007-A (CVCL

Cross-references
Cell line name	LEIi007-A
Synonyms	1082ips10; 1082IPS10
Accession	CVCL_UM07
Resource Identification Initiative	To cite this cell line use: LEIi007-A (RRID:CVCL_UM07)
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; p.Pro1380Leu (c.4139C>T); ClinVar=VCV000007904; Zygosity=Heterozygous (PubMed=30634128). Mutation; HGNC; HGNC:34; ABCA4; Simple; c.5461-10T>C; ClinVar=VCV000092870; Zygosity=Heterozygous (PubMed=30634128).
Disease	Stargardt disease (NCIt: C85078) Stargardt disease (ORDO: Orphanet_827)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	15Y
Category	Induced pluripotent stem cell
Publications	PubMed=30634128; DOI=10.1016/j.scr.2018.11.013 Johann N. Claassen, Dan Zhang, Shang-Chih Chen, Sang Yoon Moon, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Samuel McLenachan, Fred K. Chen; Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt macular dystrophy. Stem Cell Res. 34:101352-101352(2019)
Cell line databases/resources	hPSCreg; LEIi007-A
Encyclopedic resources	Wikidata; Q95982055
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	10