ID   PRE3763
AC   CVCL_C9D0
SY   C9-Asymptomatic line 3763
DR   Wikidata; Q123033278
CC   Sequence variation: Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Heterozygous (Direct_author_submission).
CC   Donor information: At sampling donor was not affected with frontotemporal dementia and/or amyotrophic lateral sclerosis but at risk for disease.
CC   Miscellaneous: Cell line information from personal communication of Shaw, Allan.
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   Female
AG   36Y
CA   Finite cell line
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 4
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