Cellosaurus cell line BIHi037-A (CVCL

Cellosaurus BIHi037-A (CVCL_ZI05)

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Cell line name

BIHi037-A

Synonyms

GM27896; GM27896*C

Accession

CVCL_ZI05

Secondary accession

CVCL_ZI01

Resource Identification Initiative

To cite this cell line use: BIHi037-A (RRID:CVCL_ZI05)

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)
Children:

CVCL_D6WH (GM29054)

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)

Cross-references

Cell line collections (Providers)

Coriell; GM27896

Cell line databases/resources

hPSCreg; BIHi037-A

Encyclopedic resources

Wikidata; Q98125562

Entry history

Entry creation

02-Jul-2020

Last entry update

19-Dec-2024

Version number