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Cellosaurus GM28466 (CVCL_C0LK)

[Text version]
Cell line name GM28466
Accession CVCL_C0LK
Resource Identification Initiative To cite this cell line use: GM28466 (RRID:CVCL_C0LK)
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:11055; SLC6A8; Simple; p.Gly67Asp (c.200G>A); Zygosity=Hemizygous (Coriell=GM28466).
Disease Cerebral creatine deficiency syndrome 1 (NCIt: C125665)
X-linked creatine transporter deficiency (ORDO: Orphanet_52503)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C0LL ! GM28467
Sex of cell Male
Age at sampling 2Y10M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28466
Encyclopedic resources Wikidata; Q112929617
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6