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Cellosaurus GM27161 (CVCL_VI94)

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Cell line name GM27161
Accession CVCL_VI94
Resource Identification Initiative To cite this cell line use: GM27161 (RRID:CVCL_VI94)
Comments Derived from site: In situ; Buttock, skin; UBERON=UBERON_8480014.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:30032; PACS1; Simple; p.Arg203Trp (c.607C>T); ClinVar=VCV000039581; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27161).
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_YZ40 (PACS1003i-GM27161)
Sex of cell Male
Age at sampling 6Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27161
Encyclopedic resources Wikidata; Q93933044
Entry history
Entry creation07-Sep-2018
Last entry update19-Dec-2024
Version number11