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Cellosaurus GM27897 (CVCL_ZI02)

[Text version]

Cell line name GM27897
Synonyms S17-1455
Accession CVCL_ZI02
Resource Identification Initiative To cite this cell line use: GM27897 (RRID:CVCL_ZI02)
Comments 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 (Coriell).
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 Children:
CVCL_ZI05 (BIHi037-A )CVCL_ZI06 (BIHi037-B )CVCL_ZI07 (BIHi037-C )
CVCL_ZI08 (BIHi037-D )CVCL_ZI09 (BIHi037-E )
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 collections Coriell; GM27897
Encyclopedic resources Wikidata; Q98126638
Entry history
Entry creation02-Jul-2020
Last entry update17-Mar-2022
Version number5