Cellosaurus cell line LEIi017-A (CVCL

Cellosaurus LEIi017-A (CVCL_A8MI)

Cross-references
Cell line name	LEIi017-A
Synonyms	1629ips9
Accession	CVCL_A8MI
Resource Identification Initiative	To cite this cell line use: LEIi017-A (RRID:CVCL_A8MI)
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.Arg152Gln (c.455G>A); ClinVar=VCV000099301; Zygosity=Heterozygous (PubMed=34198153). Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Leu1388Pro (c.4163T>C); ClinVar=VCV000099254; Zygosity=Heterozygous (PubMed=34198153). Mutation; HGNC; HGNC:34; ABCA4; Simple; c.5461-10T>C; ClinVar=VCV000092870; Zygosity=Heterozygous (PubMed=34198153). Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Asn1868Ile (c.5603A>T); ClinVar=VCV000099390; Zygosity=Heterozygous (PubMed=34198153).
Disease	Stargardt disease (NCIt: C85078) Stargardt disease (ORDO: Orphanet_827)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_A8MJ ! LEIi017-B
Sex of cell	Female
Age at sampling	16Y
Category	Induced pluripotent stem cell
Publications	PubMed=34198153; DOI=10.1016/j.scr.2021.102448 Huang D., Zhang D., Chen S.-C., Aung-Htut M.T., Lamey T.M., Thompson J.A., McLaren T.L., De Roach J.N., Fletcher S., Wilton S.D., Chen F.K., McLenachan S. Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene. Stem Cell Res. 54:102448-102448(2021)
Cell line databases/resources	hPSCreg; LEIi017-A
Encyclopedic resources	Wikidata; Q108820784
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6