ID   GM28206
AC   CVCL_B0IA
DR   Coriell; GM28206
DR   Wikidata; Q108820311
CC   Population: Bangladeshi.
CC   Sequence variation: Mutation; HGNC; HGNC:30032; PACS1; Simple; p.Arg203Trp (c.607C>T); ClinVar=VCV000039581; Zygosity=Heterozygous (Coriell=GM28206).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C150555; Schuurs-Hoeijmakers syndrome
DI   ORDO; Orphanet_329224; Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_B0IB ! GM28210
OI   CVCL_D6Y3 ! GM28584
SX   Female
AG   9Y
CA   Transformed cell line
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 7
//