Cellosaurus cell line BIHi037-E (CVCL

Cross-references
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 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 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)
Cell line databases/resources	hPSCreg; BIHi037-E
Encyclopedic resources	Wikidata; Q98125571
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	9