ID   ND40069
AC   CVCL_EZ46
DR   Coriell; ND40069
DR   NHCDR; ND40069
DR   Wikidata; Q54930150
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (NHCDR=ND40069).
CC   Discontinued: Coriell; ND40069; true.
CC   Discontinued: NHCDR; ND40069; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C26845; Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   75Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 10-04-25; Version: 12
//