Cellosaurus logo
expasy logo

Cellosaurus GM28876 (CVCL_D6YJ)

[Text version]
Cell line name GM28876
Accession CVCL_D6YJ
Resource Identification Initiative To cite this cell line use: GM28876 (RRID:CVCL_D6YJ)
Comments Population: Caucasian; Ukrainian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1550; CBS; Simple; p.His22Arg (c.65A>G); ClinVar=VCV000212870; Zygosity=Heterozygous (Coriell=GM28876).
  • Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Pro382Leu (c.1145C>T); ClinVar=VCV000533700; Zygosity=Hemizygous (Coriell=GM28876).
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_D6YI ! GM28774
Sex of cell Male
Age at sampling 10Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28876
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2