ID   UKWNLi001-A
AC   CVCL_VN62
SY   FD-W236C-iPSC
DR   hPSCreg; UKWNLi001-A
RX   PubMed=30130681;
CC   From: Department of Neurology, University of Wurzburg; Wurzburg; Germany.
CC   Sequence variation: Heterozygous for GLA p.Trp236Cys (c.708G>C) (PubMed=30130681).
DI   NCIt; C84701; Fabry disease
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   25Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 13-11-18; Version: 2
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RX   PubMed=30130681; DOI=10.1016/j.scr.2018.08.009;
RA   Klein T., Gunther K., Kwok C.K., Edenhofer F., Uceyler N.;
RT   "Generation of the human induced pluripotent stem cell line
RT   (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease
RT   carrying the X-chromosomal heterozygous c.708G>C (W236C) missense
RT   mutation in exon 5 of the alpha-galactosidase-A gene.";
RL   Stem Cell Res. 31:222-226(2018).
//