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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 site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 11005; SLC2A1; Simple; p.Pro485Leu (c.1454C>T); ClinVar=VCV000871442; Zygosity=Heterozygous (Coriell=GM27897).
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-Kohler 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 (Providers) Coriell; GM27897
Encyclopedic resources Wikidata; Q98126638
Entry history
Entry creation02-Jul-2020
Last entry update30-Jan-2024
Version number8