ID   UCLi004-A
AC   CVCL_II89
SY   RCi173; RCFB60c6
DR   BioSamples; SAMEA3964268
DR   EBiSC; UCLi004-A
DR   ECACC; 66540123
DR   hPSCreg; UCLi004-A
DR   SKIP; SKIP002667
DR   Wikidata; Q54989670
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-A).
CC   Discontinued: ECACC; 66540123; 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_EE26 ! UCLi004-B
OI   CVCL_II90 ! UCLi004-C
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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