ID   SCVIi075-A
AC   CVCL_C7YD
SY   SCVIi075A; SCVi075A
DR   BioSamples; SAMEA112288082
DR   hPSCreg; SCVIi075-A
DR   Wikidata; Q123033415
RX   PubMed=37087898;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7del; Zygosity=Homozygous (PubMed=37087898).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85075; Spinal muscular atrophy
DI   ORDO; Orphanet_70; Proximal spinal muscular atrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 29-06-23; Last updated: 30-01-24; Version: 3
//
RX   PubMed=37087898; DOI=10.1016/j.scr.2023.103095;
RA   Zeng W.-S., Kong X.-H., Alamana C., Liu Y., Guzman J., Pang P.D.,
RA   Day J.W., Wu J.C.;
RT   "Generation of two induced pluripotent stem cell lines from spinal
RT   muscular atrophy type 1 patients carrying no functional copies of
RT   SMN1 gene.";
RL   Stem Cell Res. 69:103095-103095(2023).
//