ID   UKWNLi005-A
AC   CVCL_B5II
SY   GLA-S126G-iPSC; MB1/5 iPSC
DR   hPSCreg; UKWNLi005-A
DR   Wikidata; Q110433933
RX   PubMed=35325818;
CC   From: Department of Neurology, University of Wurzburg; Wurzburg; Germany.
CC   Sequence variation: Mutation; HGNC; 4296; GLA; Simple; p.Ser126Gly (c.376A>G); ClinVar=VCV000163547; Zygosity=Hemizygous (PubMed=35325818).
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)
SX   Male
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 10-09-24; Version: 6
//
RX   PubMed=35325818; DOI=10.1016/j.scr.2022.102747;
RA   Breyer M., Klein T., Klug K., Klopocki E., Uceyler N.;
RT   "Generation of the induced pluripotent stem cell line UKWNLi005-A
RT   derived from a patient with the GLA mutation c.376A > G of unknown
RT   pathogenicity in Fabry disease.";
RL   Stem Cell Res. 61:102747-102747(2022).
//