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Cellosaurus GM28098 (CVCL_C7M6)

[Text version]
Cell line name GM28098
Accession CVCL_C7M6
Resource Identification Initiative To cite this cell line use: GM28098 (RRID:CVCL_C7M6)
Comments Population: Caucasian; German.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11055; SLC6A8; Unexplicit; Ex4-13del; Zygosity=Hemizygous (Coriell=GM28098).
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_C7M7 ! GM28099
Sex of cell Male
Age at sampling 14Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28098
Encyclopedic resources Wikidata; Q117704377
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4