ID   UCLi014-A
AC   CVCL_A0KB
AS   CVCL_A4DN
SY   RDH12 AD
DR   hPSCreg; UCLi014-A
DR   Wikidata; Q105511316
RX   PubMed=34216980;
CC   From: University College London; London; United Kingdom.
CC   Population: Kurdistani and Tunisian.
CC   Sequence variation: Mutation; HGNC; 19977; RDH12; Simple; p.Phe254Leufs*24 (c.759delC); ClinVar=VCV000812389; Zygosity=Heterozygous (PubMed=34216980).
CC   Misspelling: UCLAi014-A; Note=In Cellosaurus release 39.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=34216980
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D13S317: 11,12
ST   D16S539: 8,9
ST   D18S51: 13
ST   D21S11: 28,30.2
ST   D3S1358: 16
ST   D5S818: 12,13
ST   D7S820: 12
ST   D8S1179: 10,12
ST   FGA: 19,23
ST   Penta D: 12,14
ST   Penta E: 13,18
ST   TH01: 6,7
ST   TPOX: 9,10
ST   vWA: 16,18
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=34216980; DOI=10.1016/j.scr.2021.102449;
RA   Sarkar H., Mejecase C., Harding P., Eintracht J., Toualbi L.,
RA   Lima Cunha D., Moosajee M.;
RT   "Generation of two human iPSC lines from patients with autosomal
RT   dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive
RT   Leber congenital amaurosis (UCLi015-A), associated with RDH12
RT   variants.";
RL   Stem Cell Res. 54:102449-102449(2021).
//