ID   ICGi022-A-1
AC   CVCL_D0VR
SY   SOD1-G128R_K7-4Lf; SOD1-G128R_K7-4L-f; SOD1-G128R
DR   BioSamples; SAMEA9333558
DR   hPSCreg; ICGi022-A-1
DR   Wikidata; Q123032655
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian; Siberian.
CC   Sequence variation: Mutation; HGNC; 11179; SOD1; Simple_edited; p.Gly128Arg (c382G>C); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (hPSCreg=ICGi022-A-1).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168749; Amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_ZE02 ! ICGi022-A
SX   Female
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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