ID   GM27159
AC   CVCL_VI93
DR   Coriell; GM27159
DR   Wikidata; Q93933040
CC   Population: Caucasian and Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:30032; PACS1; Simple; p.Arg203Trp (c.607C>T); ClinVar=VCV000039581; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27159).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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   Female
AG   3Y
CA   Finite cell line
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 11
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