ID   PACS1003i-GM27161
AC   CVCL_YZ40
DR   WiCell; pacs1003i-gm27161
DR   Wikidata; Q98128464
CC   Sequence variation: Mutation; HGNC; 30032; PACS1; Simple; p.Arg203Trp (c.607C>T); ClinVar=VCV000039581; Zygosity=Heterozygous; Note=De novo mutation (from parent cell line).
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)
HI   CVCL_VI94 ! GM27161
SX   Male
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 7
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