ID   NH50198
AC   CVCL_YP36
DR   NHCDR; NH50198
DR   Wikidata; Q98127642
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9438; PRKRA; Simple; p.Cys213Arg (c.637T>C); ClinVar=VCV000689778; Zygosity=Heterozygous (NHCDR=NH50198).
CC   Sequence variation: Mutation; HGNC; HGNC:9438; PRKRA; Simple; p.Pro222Leu (c.665C>T); ClinVar=VCV000006346; Zygosity=Heterozygous (NHCDR=NH50198).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168729; Dystonia 16
DI   ORDO; Orphanet_210571; Dystonia 16
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   18Y
CA   Finite cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 9
//