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Cellosaurus GM27650 (CVCL_YN50)

[Text version]
Cell line name GM27650
Accession CVCL_YN50
Resource Identification Initiative To cite this cell line use: GM27650 (RRID:CVCL_YN50)
Comments Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
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=GM27650).
Disease Schuurs-Hoeijmakers syndrome (NCIt: C150555)
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome (ORDO: Orphanet_329224)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 15Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27650
Encyclopedic resources Wikidata; Q93933279
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9