ID   UKWNLi006-A
AC   CVCL_C0H3
SY   GLA-D170N-iPSC; FD1089/20
DR   BioSamples; SAMEA110695543
DR   hPSCreg; UKWNLi006-A
DR   Wikidata; Q112930513
RX   PubMed=36640471;
CC   From: Department of Neurology, University of Wurzburg; Wurzburg; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4296; GLA; Simple; p.Asp170Asn (c.508G>A); Zygosity=Hemizygous (PubMed=36640471).
CC   Derived from site: In situ; Leg, skin, dermis; UBERON=UBERON_0001511+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84701; Fabry disease
DI   ORDO; Orphanet_324; Fabry disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C6TA ! UKWNLi006-B
SX   Male
AG   36Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
//
RX   PubMed=36640471; DOI=10.1016/j.scr.2023.103025;
RA   Klug K., Breyer M., Klopocki E., Uceyler N.;
RT   "Generation of two induced pluripotent stem cell lines UKWNLi006 and
RT   UKWNLi007 derived from two patients with an active site GLA mutation
RT   leading to a pain and no pain phenotype in Fabry disease.";
RL   Stem Cell Res. 67:103025-103025(2023).
//