ID   STBCi017-C
AC   CVCL_RB67
SY   SFC811-03-05
DR   BioSamples; SAMEA104493632
DR   EBiSC; STBCi017-C
DR   ECACC; 66540672
DR   hPSCreg; STBCi017-C
DR   Wikidata; Q54956382
CC   From: StemBANCC; UK.
CC   Sequence variation: Mutation; HGNC; 10597; SCN9A; Simple; p.Arg841Ter (c.2521C>T) (p.Arg830Ter, c.2488C>T); ClinVar=VCV000440257; Zygosity=Heterozygous (EBiSC).
CC   Sequence variation: Mutation; HGNC; 10597; SCN9A; Simple; p.Glu1784Glyfs (c.5351delA) (p.Glu1773Glyfs, c.5318delA); ClinVar=VCV000471143; Zygosity=Heterozygous (EBiSC).
CC   Derived from sampling site: Fibroblast.
DI   NCIt; C4731; Neuropathy
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_RB65 ! STBCi017-A
OI   CVCL_RB66 ! STBCi017-B
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 20-05-21; Version: 8
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