ID   F09229
AC   CVCL_A9SR
DR   CLO; CLO_0037417
DR   LINCS_LDP; LPC-1018
DR   Wikidata; Q102113805
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (from child cell line ND50076).
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_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   47Y
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 9
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