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Cellosaurus GM29687 (CVCL_F0YH)

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Cell line name GM29687
Accession CVCL_F0YH
Resource Identification Initiative To cite this cell line use: GM29687 (RRID:CVCL_F0YH)
Comments Population: Korean.
Derived from site: In situ; Buttock, skin; UBERON=UBERON_8480014.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:8582; PAH; Simple; p.Tyr356Ter (c.1068C>A); ClinVar=VCV000092729; Zygosity=Heterozygous (Coriell=GM29687).
  • Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Asn336del (c.1000AAC[2]) (c.1006_1008delAAC); ClinVar=VCV000265402; Zygosity=Hemizygous (Coriell=GM29687).
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_D6YU ! GM28788
Sex of cell Male
Age at sampling 5Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM29687
Entry history
Entry creation27-Nov-2025
Last entry update27-Nov-2025
Version number1