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Cellosaurus LEIi007-A (CVCL_UM07)

[Text version]
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; 34; ABCA4; Simple; p.Pro1380Leu (c.4139C>T); ClinVar=VCV000007904; Zygosity=Heterozygous (PubMed=30634128).
  • Mutation; 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
Claassen J.N., Zhang D., Chen S.-C., Moon S.Y., Lamey T.M., Thompson J.A., McLaren T.L., De Roach J.N., McLenachan S., Chen F.K.
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)

Cross-references
Cell line databases/resources hPSCreg; LEIi007-A
Encyclopedic resources Wikidata; Q95982055
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number9