ID   ND43208
AC   CVCL_1N99
DR   Coriell; ND43208
DR   NHCDR; ND43208
DR   Wikidata; Q54930240
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=ND43208).
CC   Discontinued: Coriell; ND43208; true.
CC   Discontinued: NHCDR; ND43208; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168756; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1N98 ! ND42765
OI   CVCL_GP61 ! ND50035
SX   Female
AG   65Y
CA   Induced pluripotent stem cell
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 13
//