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; Oxford; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:10597; SCN9A; Simple; p.Arg841Ter (c.2521C>T) (p.Arg830Ter, c.2488C>T); ClinVar=VCV000440257; Zygosity=Heterozygous (EBiSC=STBCi017-C).
CC   Sequence variation: Mutation; HGNC; HGNC:10597; SCN9A; Simple; p.Glu1784Glyfs*14 (c.5351delA) (p.Glu1773Glyfs, c.5318delA); ClinVar=VCV000471143; Zygosity=Heterozygous (EBiSC=STBCi017-C).
CC   Discontinued: ECACC; 66540672; true.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C4731; Neuropathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RB65 ! STBCi017-A
OI   CVCL_RB66 ! STBCi017-B
SX   Male
AG   25-29Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 13
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