ID   ICGi006-B
AC   CVCL_UF68
SY   m3SMA20
DR   BioSamples; SAMEA5131666
DR   hPSCreg; ICGi006-B
DR   Wikidata; Q94313415
RX   PubMed=30660867;
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=30660867).
CC   Sequence variation: Gene deletion; HGNC; 11117; SMN1; Zygosity=Homozygous (PubMed=30660867).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C156310; Spinal muscular atrophy type 2
DI   ORDO; Orphanet_83418; Proximal spinal muscular atrophy type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UF67 ! ICGi006-A
SX   Male
AG   34Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 29-06-23; Version: 10
//
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 J.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).
//