Cellosaurus logo
expasy logo

Cellosaurus LEIi012-B (CVCL_YT08)

[Text][XML][JSON]
Cell line name LEIi012-B
Synonyms 1357iPS11
Accession CVCL_YT08
Resource Identification Initiative To cite this cell line use: LEIi012-B (RRID:CVCL_YT08)
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_YT07 ! LEIi012-A
Sex of cell Male
Age at sampling 31Y
Category Induced pluripotent stem cell
Publications

PubMed=32810830; DOI=10.1016/j.scr.2020.101947
Luke Jennings, Dan Zhang, Shang-Chih Chen, Sang Yoon Moon, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Fred K. Chen, Samuel McLenachan;
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-B
Encyclopedic resources Wikidata; Q95982065
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9