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Cellosaurus GM28288 (CVCL_D2ZQ)

[Text version]
Cell line name GM28288
Accession CVCL_D2ZQ
Resource Identification Initiative To cite this cell line use: GM28288 (RRID:CVCL_D2ZQ)
Comments Population: Caucasian and Chinese.
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.Gln114His (c.342G>C); ClinVar=VCV000940774; Zygosity=Hemizygous (Coriell=GM28288).
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_D2ZR ! GM28309
Sex of cell Male
Age at sampling 3Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28288
Encyclopedic resources Wikidata; Q127380915
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3