ID   BIHi037-C
AC   CVCL_ZI07
DR   hPSCreg; BIHi037-C
DR   Wikidata; Q98125566
RX   PubMed=30197081;
CC   From: Berlin Institute of Health; Berlin; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11005; SLC2A1; Simple; p.Pro485Leu (c.1454C>T); ClinVar=VCV000871442; Zygosity=Heterozygous (PubMed=30197081).
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C168599; GLUT1 deficiency syndrome 1
DI   ORDO; Orphanet_71277; Classic glucose transporter type 1 deficiency syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
HI   CVCL_ZI02 ! GM27897
SX   Female
AG   19Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 17-03-22; Version: 5
//
RX   PubMed=30197081; DOI=10.1016/j.cell.2018.08.019;
RA   Meyer K., Kirchner M., Uyar B., Cheng J.-Y., Russo G.,
RA   Hernandez-Miranda L.R., Szymborska A., Zauber H., Rudolph I.-M.,
RA   Willnow T.E., Akalin A., Haucke V., Gerhardt H., Birchmeier C.,
RA   Kuhn R., Krauss M., Diecke S., Pascual J.M., Selbach M.;
RT   "Mutations in disordered regions can cause disease by creating
RT   dileucine motifs.";
RL   Cell 175:239-253.e17(2018).
//