ID   GM28891
AC   CVCL_D2ZH
SY   GM28891*B
DR   Coriell; GM28891
DR   Wikidata; Q127380935
CC   Population: Bangladeshi.
CC   Sequence variation: Mutation; HGNC; HGNC:30032; PACS1; Simple; p.Arg203Trp (c.607C>T); ClinVar=VCV000039581; Zygosity=Heterozygous (Coriell=GM28891).
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)
HI   CVCL_B0IB ! GM28210
SX   Female
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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