ID   UCLi023-A
AC   CVCL_D0N0
SY   UCLIoO-041-A; LORD-S163R-01
DR   hPSCreg; UCLi023-A
DR   Wikidata; Q123033676
RX   PubMed=37207468;
CC   From: University College London; London; United Kingdom.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 14344; C1QTNF5; Simple; p.Ser163Arg (c.489C>G); ClinVar=VCV000002126; Zygosity=Heterozygous (PubMed=37207468).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=37207468
ST   Amelogenin: X,Y
ST   CSF1PO: 12,13
ST   D10S1248: 12,15
ST   D12S391: 15,18
ST   D13S317: 11
ST   D16S539: 10,12
ST   D18S51: 18,19
ST   D19S433: 14
ST   D1S1656: 12,16
ST   D21S11: 29,30
ST   D22S1045: 11,15
ST   D2S1338: 17,25
ST   D2S441: 11,14
ST   D3S1358: 15,17
ST   D5S818: 11,13
ST   D7S820: 8,10
ST   D8S1179: 13,14
ST   DYS391: 9
ST   DYS570: 20
ST   DYS576: 16
ST   FGA: 19,20
ST   Penta D: 11,12
ST   Penta E: 12,14
ST   SE33: 18.3,20
ST   TH01: 8,9.3
ST   TPOX: 8
ST   vWA: 14,17
DI   NCIt; C202070; Late-onset retinal degeneration
DI   ORDO; Orphanet_67042; Late-onset retinal degeneration
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   61Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37207468; DOI=10.1016/j.scr.2023.103110;
RA   Alonso-Carriazo Fernandez A., Ashley-Norman P., Butt Z., Moosajee M.,
RA   Carr A.-J.F.;
RT   "Establishment and characterization of an iPSC line (UCLi023-A)
RT   derived from a late-onset retinal degeneration patient carrying a
RT   founder mutation in C1QTNF5.";
RL   Stem Cell Res. 69:103110-103110(2023).
//