ID   UCLi002-A
AC   CVCL_9S55
SY   HHItC9D-V34; DN19
DR   BioSamples; SAMEA3174461
DR   EBiSC; UCLi002-A
DR   ECACC; 66540029
DR   hPSCreg; UCLi002-A
DR   Wikidata; Q54989667
CC   From: University College London; London; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (EBiSC=UCLi002-A).
CC   Discontinued: ECACC; 66540029; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168756; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_275872; Frontotemporal dementia with motor neuron disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   55-59Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 10-04-25; Version: 15
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