Cellosaurus logo
expasy logo

Cellosaurus SEIi001-A (CVCL_UJ70)

[Text][XML][JSON]
Cell line name SEIi001-A
Synonyms SEIOA1#1
Accession CVCL_UJ70
Resource Identification Initiative To cite this cell line use: SEIi001-A (RRID:CVCL_UJ70)
Comments From: UCLA Stein Eye Institute; Los Angeles; USA.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:20145; GPR143; Simple; c.885+748G>A (g.25288G>A); ClinVar=VCV001408135; Zygosity=Hemizygous; Note=Creates an acceptor splice site (PubMed=30513407).
Disease Ocular albinism type 1 (NCIt: C118785)
X-linked recessive ocular albinism (ORDO: Orphanet_54)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 27Y
Category Induced pluripotent stem cell
Publications

PubMed=30513407; DOI=10.1016/j.scr.2018.11.016
Edouard Baulier, Angel Garcia-Diaz, Barbara Corneo, Debora B. Farber;
Generation of a human ocular albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143.
Stem Cell Res. 33:274-277(2018)

Cross-references
Cell line databases/resources hPSCreg; SEIi001-A
Encyclopedic resources Wikidata; Q98132441
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number10