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Cellosaurus GM29054 (CVCL_D6WH)

[Text version]
Cell line name GM29054
Synonyms GM29054*B
Accession CVCL_D6WH
Resource Identification Initiative To cite this cell line use: GM29054 (RRID:CVCL_D6WH)
Comments 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_corrected; p.Pro485Leu (c.1454C>T); ClinVar=VCV000871442; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (Coriell=GM29054).
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_ZI05 (BIHi037-A)
Sex of cell Female
Age at sampling 19Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM29054
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2