ID   ICGi003-A
SY   f3SMA3
DR   BioSamples; SAMEA6877529
DR   hPSCreg; ICGi003-A
DR   Wikidata; Q98126757
RX   PubMed=32795928;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Gene amplification; HGNC; 11118; SMN2; Triplication; Zygosity=Unspecified (PubMed=32795928).
CC   Sequence variation: Gene deletion; HGNC; 11117; SMN1; Zygosity=Homozygous (PubMed=32795928).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C118847; Spinal muscular atrophy type 3
DI   ORDO; Orphanet_83419; Proximal spinal muscular atrophy type 3
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 6
RX   PubMed=32795928; DOI=10.1016/j.scr.2020.101938;
RA   Ovechkina V.S., Maretina M.A., Egorova A.A., Baranov V.S.,
RA   Kiselev A.V., Zakian S.M., Valetdinova K.R.;
RT   "Generation of a spinal muscular atrophy type III patient-specific
RT   induced pluripotent stem cell line ICGi003-A.";
RL   Stem Cell Res. 48:101938-101938(2020).