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Cellosaurus LEIi017-A (CVCL_A8MI)

[Text version]

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 sampling site: Skin; dermis. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 34; ABCA4; Simple; p.Arg152Gln (c.455G>A); ClinVar=VCV000099301; Zygosity=Heterozygous (PubMed=34198153).
  • Mutation; HGNC; 34; ABCA4; Simple; p.Leu1388Pro (c.4163T>C); ClinVar=VCV000099254; Zygosity=Heterozygous (PubMed=34198153).
  • Mutation; HGNC; 34; ABCA4; Simple; c.5461-10T>C; ClinVar=VCV000092870; Zygosity=Heterozygous (PubMed=34198153).
  • Mutation; 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)

Cross-references
Cell line databases/resources hPSCreg; LEIi017-A
Encyclopedic resources Wikidata; Q108820784
Entry history
Entry creation23-Sep-2021
Last entry update17-Mar-2022
Version number3