ID   chHES-427
AC   CVCL_AD57
DR   Wikidata; Q54812003
RX   PubMed=27345972;
CC   From: National Engineering and Research Center of Human Stem Cells; Changsha; China.
CC   Sequence variation: Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7del; Zygosity=Homozygous (PubMed=27345972).
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: 23-02-16; Last updated: 19-12-24; Version: 12
//
RX   PubMed=27345972; DOI=10.1016/j.scr.2015.12.030;
RA   Xie P.-Y., Zhou H., Zhou X.-Y., Zhao X.-M., Du J., Lu G.-X., Lin G.,
RA   Ouyang Q.;
RT   "Derivation of human embryonic stem cell from spinal muscular atrophy
RT   patient.";
RL   Stem Cell Res. 16:216-219(2016).
//