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Cellosaurus LEIi012-A (CVCL_YT07)

[Text version]
Cell line name LEIi012-A
Synonyms 1357ips5
Accession CVCL_YT07
Resource Identification Initiative To cite this cell line use: LEIi012-A (RRID:CVCL_YT07)
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.Val256Val (c.768G>T); ClinVar=VCV000099505; Zygosity=Heterozygous; Note=Affects splicing (PubMed=32810830).
  • Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Leu2027Phe (c.6079C>T); ClinVar=VCV000007882; Zygosity=Heterozygous (PubMed=32810830).
Disease Stargardt disease (NCIt: C85078)
Stargardt disease (ORDO: Orphanet_827)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_YT08 ! LEIi012-B
Sex of cell Male
Age at sampling 31Y
Category Induced pluripotent stem cell
Publications

PubMed=32810830; DOI=10.1016/j.scr.2020.101947
Jennings L., Zhang D., Chen S.-C., Moon S.Y., Lamey T.M., Thompson J.A., McLaren T.L., De Roach J.N., Chen F.K., McLenachan S.
Generation of two induced pluripotent stem cell lines from a patient with Stargardt macular dystrophy caused by the c.768G>T and c.6079C>T mutations in ABCA4.
Stem Cell Res. 48:101947-101947(2020)

Cross-references
Cell line databases/resources hPSCreg; LEIi012-A
Biological sample resources BioSamples; SAMEA6438549
Encyclopedic resources Wikidata; Q95982064
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9