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Cellosaurus GM27159 (CVCL_VI93)

[Text version]
Cell line name GM27159
Accession CVCL_VI93
Resource Identification Initiative To cite this cell line use: GM27159 (RRID:CVCL_VI93)
Comments Population: Caucasian and Indian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 30032; PACS1; Simple; p.Arg203Trp (c.607C>T); ClinVar=VCV000039581; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27159).
Disease Schuurs-Hoeijmakers syndrome (NCIt: C150555)
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome (ORDO: Orphanet_329224)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_YZ39 (PACS1002i-GM27159)
Sex of cell Female
Age at sampling 3Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27159
Encyclopedic resources Wikidata; Q93933040
Entry history
Entry creation07-Sep-2018
Last entry update30-Jan-2024
Version number10