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Cellosaurus GM27874 (CVCL_ZW49)

[Text version]
Cell line name GM27874
Accession CVCL_ZW49
Resource Identification Initiative To cite this cell line use: GM27874 (RRID:CVCL_ZW49)
Comments Population: Caucasian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Phe408del (c.1216_1218TTC[2]) (c.1222_1224delTTC); ClinVar=VCV000011698; Zygosity=Hemizygous (Coriell=GM27874).
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_ZW48 ! GM27863
Sex of cell Male
Age at sampling 4Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27874
Encyclopedic resources Wikidata; Q102113937
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number8