Cellosaurus cell line BIHi037-C (CVCL

Cross-references
Cell line name	BIHi037-C
Accession	CVCL_ZI07
Resource Identification Initiative	To cite this cell line use: BIHi037-C (RRID:CVCL_ZI07)
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; 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 Katrina Meyer, Marieluise Kirchner, Bora Uyar, Jing-Yuan Cheng, Giulia Russo, Luis R. Hernandez-Miranda, Anna Szymborska, Henrik Zauber, Ina-Maria Rudolph, Thomas Erich Willnow, Altuna Akalin ...Show all 19 authors... , Volker Haucke, Holger Gerhardt, Carmen Birchmeier-Kohler, Ralf Kuhn, Michael Krauss, Sebastian Diecke, Juan Manuel Pascual, Matthias Selbach; Show fewer authors Mutations in disordered regions can cause disease by creating dileucine motifs. Cell 175:239-253.e17(2018)
Cell line databases/resources	hPSCreg; BIHi037-C
Encyclopedic resources	Wikidata; Q98125566
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	9