ID   ICGi005-A
AC   CVCL_UF65
SY   iSMA40
DR   BioSamples; SAMEA5100024
DR   hPSCreg; ICGi005-A
DR   Wikidata; Q94313406
RX   CelloPub=CLPUB00461;
RX   PubMed=30660867;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Gene deletion; HGNC; 11117; SMN1; Zygosity=Homozygous (PubMed=30660867).
CC   Derived from sampling site: Skin.
DI   NCIt; C98670; Werdnig-Hoffmann disease
DI   ORDO; Orphanet_83330; Proximal spinal muscular atrophy type 1
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_UF66 ! ICGi005-B
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 20-05-21; Version: 7
//
RX   CelloPub=CLPUB00461;
RA   Goigoreva E.V., Valetdinova K.R., Ustyantseva E.I., Shevchenko A.I.,
RA   Medvedev S.P., Mazurok N.A., Maretina M.A., Kuranova M.L., Kiselev A.V.,
RA   Baranov V.S., Zakyan S.M.;
RT   "Neural differentiation of patient-specific induced pluripotent stem
RT   cells from patients with a hereditary form of spinal muscular
RT   atrophy.";
RL   Genes and Cells 11:2.70-2.79(2016).
//
RX   PubMed=30660867; DOI=10.1016/j.scr.2018.101376;
RA   Valetdinova K.R., Maretina M.A., Kuranova M.L., Grigor'eva E.V.,
RA   Minina Y.M., Kizilova E.A., Kiselev A.V., Medvedev S.P., Baranov V.S.,
RA   Zakian S.M.;
RT   "Generation of two spinal muscular atrophy (SMA) type I
RT   patient-derived induced pluripotent stem cell (iPSC) lines and two SMA
RT   type II patient-derived iPSC lines.";
RL   Stem Cell Res. 34:101376-101376(2019).
//