ID   CSCRMi001-A
SY   POGLUT1 c.699T > G (D233E)-II.5-3
DR   hPSCreg; CSCRMi001-A
DR   Wikidata; Q54814567
RX   PubMed=29034878;
CC   From: Center for Stem Cell and Regenerative Medicine (CSCRM), University of Texas Health Science Center; Houston; USA.
CC   Sequence variation: Mutation; HGNC; 22954; POGLUT1; Simple; p.Asp233Glu (c.699T>G); ClinVar=VCV000372263; Zygosity=Homozygous (PubMed=29034878).
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C142082; Limb-girdle muscular dystrophy type 2Z
DI   ORDO; Orphanet_480682; Autosomal recessive limb-girdle muscular dystrophy type 2Z
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 17-03-22; Version: 9
RX   PubMed=29034878; DOI=10.1016/j.scr.2017.08.020;
RA   Wu J., Hunt S.D., Matthias N., Servian-Morilla E., Lo J.,
RA   Jafar-Nejad H., Paradas C., Darabi R.;
RT   "Generation of an induced pluripotent stem cell line (CSCRMi001-A)
RT   from a patient with a new type of limb-girdle muscular dystrophy
RT   (LGMD) due to a missense mutation in POGLUT1 (Rumi).";
RL   Stem Cell Res. 24:102-105(2017).