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Cellosaurus UCLi023-A (CVCL_D0N0)

[Text version]
Cell line name UCLi023-A
Synonyms UCLIoO-041-A; LORD-S163R-01
Accession CVCL_D0N0
Resource Identification Initiative To cite this cell line use: UCLi023-A (RRID:CVCL_D0N0)
Comments From: University College London; London; United Kingdom.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 14344; C1QTNF5; Simple; p.Ser163Arg (c.489C>G); ClinVar=VCV000002126; Zygosity=Heterozygous (PubMed=37207468).
Disease Late-onset retinal degeneration (NCIt: C202070)
Late-onset retinal degeneration (ORDO: Orphanet_67042)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 61Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=37207468

Markers:
AmelogeninX,Y
CSF1PO12,13
D1S165612,16
D2S44111,14
D2S133817,25
D3S135815,17
D5S81811,13
D7S8208,10
D8S117913,14
D10S124812,15
D12S39115,18
D13S31711
D16S53910,12
D18S5118,19
D19S43314
D21S1129,30
D22S104511,15
DYS3919
DYS57020
DYS57616
FGA19,20
Penta D11,12
Penta E12,14
SE3318.3,20
TH018,9.3
TPOX8
vWA14,17

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Publications

PubMed=37207468; DOI=10.1016/j.scr.2023.103110
Alonso-Carriazo Fernandez A., Ashley-Norman P., Butt Z., Moosajee M., Carr A.-J.F.
Establishment and characterization of an iPSC line (UCLi023-A) derived from a late-onset retinal degeneration patient carrying a founder mutation in C1QTNF5.
Stem Cell Res. 69:103110-103110(2023)

Cross-references
Cell line databases/resources hPSCreg; UCLi023-A
Encyclopedic resources Wikidata; Q123033676
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2