ID   ND40081
AC   CVCL_EZ57
DR   Coriell; ND40081
DR   NHCDR; ND40081
DR   Wikidata; Q54930162
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1388; CACNA1A; Simple; p.Arg1345Ter (c.4033C>T) (p.Arg1346Ter, c.4036C>T) (R1346*); ClinVar=VCV000585570; Zygosity=Unspecified (NHCDR=ND40081).
CC   Discontinued: Coriell; ND40081; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C26845; Parkinson's disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   24Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 11
//