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Cellosaurus LEIi018-A (CVCL_A8MK)

[Text version]
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; 34; ABCA4; Simple; c.5461-10T>C; ClinVar=VCV000092870; Zygosity=Heterozygous (PubMed=34214897).
  • Mutation; HGNC; 34; ABCA4; Simple; p.Asn1868Ile (c.5603A>T); ClinVar=VCV000099390; Zygosity=Heterozygous (PubMed=34214897).
  • Mutation; 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)

Cross-references
Cell line databases/resources hPSCreg; LEIi018-A
Encyclopedic resources Wikidata; Q108820786
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number5