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Cellosaurus UCLi015-A (CVCL_A0KC)

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Cell line name UCLi015-A
Synonyms RDH12 AR
Accession CVCL_A0KC
Secondary accession CVCL_A4DP
Resource Identification Initiative To cite this cell line use: UCLi015-A (RRID:CVCL_A0KC)
Comments From: University College London; London; United Kingdom.
Population: Pakistani.
Misspelling: UCLAi015-A; Note=In Cellosaurus release 39.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
Disease Leber congenital amaurosis (NCIt: C129075)
Leber congenital amaurosis (ORDO: Orphanet_65)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 40Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=34216980

Markers:
AmelogeninX
CSF1PO10,12
D3S135816
D5S81812
D7S82010,11
D8S117912,15
D13S31712
D16S53911,13
D18S5113,16
D21S1128,31.2
FGA21,27
Penta D9,11
Penta E7,11
TH017
TPOX8,11
vWA14,16

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Publications

PubMed=34216980; DOI=10.1016/j.scr.2021.102449; PMCID=PMC8363920
Hajrah Sarkar, Cecile Mejecase, Philippa Harding, Jonathan Eintracht, Lyes Toualbi, Dulce Lima Cunha, Mariya Moosajee;
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; UCLi015-A
Encyclopedic resources Wikidata; Q105511320
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number6