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Cellosaurus GM28075 (CVCL_C0LF)

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Cell line name GM28075
Accession CVCL_C0LF
Resource Identification Initiative To cite this cell line use: GM28075 (RRID:CVCL_C0LF)
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:18060; ARX; Simple; p.Ala151_Ala155dup (c.441_455dup15); ClinVar=VCV000818170; Zygosity=Hemizygous (Coriell=GM28075).
  • Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Asn336del (c.1000AAC[2]) (c.1006_1008delAAC); ClinVar=VCV000265402; Zygosity=Hemizygous (Coriell=GM28075).
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 Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28075
Encyclopedic resources Wikidata; Q112929592
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6