ID   UCLi004-C
AC   CVCL_II90
SY   RCi172; RCFB60c2
DR   BioSamples; SAMEA4085372
DR   EBiSC; UCLi004-C
DR   ECACC; 66540165
DR   hPSCreg; UCLi004-C
DR   SKIP; SKIP002672
DR   Wikidata; Q54989672
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 (hPSCreg=UCLi004-C).
CC   Discontinued: ECACC; 66540165; true.
CC   Cell type: Fibroblast; CL=CL_0000057.
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)
OI   CVCL_II89 ! UCLi004-A
OI   CVCL_EE26 ! UCLi004-B
SX   Male
AG   50-54Y
CA   Induced pluripotent stem cell
DT   Created: 01-12-16; Last updated: 10-04-25; Version: 14
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