ID   SZ-SMA5
AC   CVCL_YL67
SY   SZ-SMA5 PGD; SMA#5
DR   NIHhESC; NIHhESC-20-0467
DR   Wikidata; Q98133046
RX   PubMed=26473610;
WW   https://www.szmc.org.il/UploadFiles/12_2016/HESC.pdf
CC   From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0467.
CC   Sequence variation: Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (PubMed=26473610).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C98670; Werdnig-Hoffmann disease
DI   ORDO; Orphanet_83330; Proximal spinal muscular atrophy type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=26473610; DOI=10.1371/journal.pone.0138893; PMCID=PMC4608834;
RA   Epsztejn-Litman S., Cohen-Hadad Y., Aharoni S., Altarescu G.,
RA   Renbaum P., Levy-Lahad E., Schonberger O., Eldar-Geva T., Zeligson S.,
RA   Eiges R.;
RT   "Establishment of homozygote mutant human embryonic stem cells by
RT   parthenogenesis.";
RL   PLoS ONE 10:E0138893-E0138893(2015).
//