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Cellosaurus GM27863 (CVCL_ZW48)

[Text version]
Cell line name GM27863
Accession CVCL_ZW48
Resource Identification Initiative To cite this cell line use: GM27863 (RRID:CVCL_ZW48)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Phe408del (c.1216_1218TTC[2]) (c.1222_1224delTTC); ClinVar=VCV000011698; Zygosity=Hemizygous (Coriell=GM27863).
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)
Hierarchy Children:
CVCL_C7M0 (GM28937)
Originate from same individual CVCL_ZW49 ! GM27874
Sex of cell Male
Age at sampling 4Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27863
Encyclopedic resources Wikidata; Q102113930
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number7