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Cellosaurus GM27909 (CVCL_ZW46)

[Text version]
Cell line name GM27909
Accession CVCL_ZW46
Resource Identification Initiative To cite this cell line use: GM27909 (RRID:CVCL_ZW46)
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; Simple; p.Val277_Leu281dup (c.829_843dup15); ClinVar=VCV000810773; Zygosity=Hemizygous (Coriell=GM27909).
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)
Sex of cell Male
Age at sampling 10Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27909
Encyclopedic resources Wikidata; Q102113942
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number8