ID   STBCi017-A-1
AC   CVCL_C1WW
SY   AZi326-A-1
DR   hPSCreg; STBCi017-A-1
DR   Wikidata; Q114313047
CC   From: AstraZeneca; Cambridge; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 10597; SCN9A; Simple_corrected; p.Arg841Ter (c.2521C>T) (p.Arg830Ter, c.2488C>T); ClinVar=VCV000440257; Zygosity=Heterozygous; By CRISPR/Cas9 (hPSCreg=STBCi017-A-1).
CC   Sequence variation: Mutation; HGNC; 10597; SCN9A; Simple_corrected; p.Glu1784Glyfs*14 (c.5351delA) (p.Glu1773Glyfs, c.5318delA); ClinVar=VCV000471143; Zygosity=Heterozygous; By CRISPR/Cas9 (hPSCreg=STBCi017-A-1).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C4731; Neuropathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_RB65 ! STBCi017-A
SX   Male
AG   25-29Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 30-01-24; Version: 5
//