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Cellosaurus BIHi037-B (CVCL_ZI06)

[Text version]
Cell line name BIHi037-B
Accession CVCL_ZI06
Resource Identification Initiative To cite this cell line use: BIHi037-B (RRID:CVCL_ZI06)
Comments From: Berlin Institute of Health; Berlin; Germany.
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 (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 Induced pluripotent stem cell
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 databases/resources hPSCreg; BIHi037-B
Encyclopedic resources Wikidata; Q98125565
Entry history
Entry creation02-Jul-2020
Last entry update10-Sep-2024
Version number8