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Cellosaurus PACS1003i-GM27161 (CVCL_YZ40)

[Text version]
Cell line name PACS1003i-GM27161
Accession CVCL_YZ40
Resource Identification Initiative To cite this cell line use: PACS1003i-GM27161 (RRID:CVCL_YZ40)
Comments Derived from site: In situ; Buttock, skin; UBERON=UBERON_8480014.
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 (from parent cell line).
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 Parent: CVCL_VI94 (GM27161)
Sex of cell Male
Age at sampling 6Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) WiCell; pacs1003i-gm27161
Encyclopedic resources Wikidata; Q98128464
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number7