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Cellosaurus BIHi037-E (CVCL_ZI09)

[Text version]

Cell line name BIHi037-E
Accession CVCL_ZI09
Resource Identification Initiative To cite this cell line use: BIHi037-E (RRID:CVCL_ZI09)
Comments From: Berlin Institute of Health; Berlin; Germany.
Population: Caucasian.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 11005; SLC2A1; Simple; p.Pro485Leu (c.1454C>T); ClinVar=VCV000871442; Zygosity=Heterozygous (PubMed=30197081).
Disease GLUT1 deficiency syndrome 1 (NCIt: C168599)
Classic glucose transporter type 1 deficiency syndrome (ORDO: Orphanet_71277)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZI02 (GM27897)
Sex of cell Female
Age at sampling 19Y
Category Finite cell line
Publications

PubMed=30197081; DOI=10.1016/j.cell.2018.08.019
Meyer K., Kirchner M., Uyar B., Cheng J.-Y., Russo G., Hernandez-Miranda L.R., Szymborska A., Zauber H., Rudolph I.-M., Willnow T.E., Akalin A., Haucke V., Gerhardt H., Birchmeier C., Kuhn R., Krauss M., Diecke S., Pascual J.M., Selbach M.
Mutations in disordered regions can cause disease by creating dileucine motifs.
Cell 175:239-253.e17(2018)

Cross-references
Cell line databases/resources hPSCreg; BIHi037-E
Encyclopedic resources Wikidata; Q98125571
Entry history
Entry creation02-Jul-2020
Last entry update17-Mar-2022
Version number5