Home  |  Contact

Cellosaurus UCLi014-A (CVCL_A0KB)

[Text version]

Cell line name UCLi014-A
Synonyms RDH12 AD
Accession CVCL_A0KB
Secondary accession CVCL_A4DN
Resource Identification Initiative To cite this cell line use: UCLi014-A (RRID:CVCL_A0KB)
Comments From: University College London; London; United Kingdom.
Population: Kurdistani and Tunisian.
Misspelling: UCLAi014-A; In Cellosaurus release 39.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 19977; RDH12; Simple; p.Phe254Leufs*24 (c.759delC); ClinVar=VCV000812389; Zygosity=Heterozygous (PubMed=34216980).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 32Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=34216980

Markers:
AmelogeninX,Y
CSF1PO11,12
D3S135816
D5S81812,13
D7S82012
D8S117910,12
D13S31711,12
D16S5398,9
D18S5113
D21S1128,30.2
FGA19,23
Penta D12,14
Penta E13,18
TH016,7
TPOX9,10
vWA16,18

Run an STR similarity search on this cell line
Publications

PubMed=34216980; DOI=10.1016/j.scr.2021.102449
Sarkar H., Mejecase C., Harding P., Eintracht J., Toualbi L., Cunha D.L., Moosajee M.
Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants.
Stem Cell Res. 54:102449-102449(2021)

Cross-references
Cell line databases/resources hPSCreg; UCLi014-A
Encyclopedic resources Wikidata; Q105511316
Entry history
Entry creation23-Sep-2021
Last entry update17-Mar-2022
Version number3