ID   GM27161
AC   CVCL_VI94
DR   Coriell; GM27161
DR   Wikidata; Q93933044
CC   Sequence variation: Mutation; HGNC; HGNC:30032; PACS1; Simple; p.Arg203Trp (c.607C>T); ClinVar=VCV000039581; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27161).
CC   Derived from site: In situ; Buttock, skin; UBERON=UBERON_8480014.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C150555; Schuurs-Hoeijmakers syndrome
DI   ORDO; Orphanet_329224; Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   6Y
CA   Finite cell line
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 11
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