ID   SCVIi076-A
AC   CVCL_C7YE
SY   SCVIi076A; SCVi076A
DR   BioSamples; SAMEA112288085
DR   hPSCreg; SCVIi076-A
DR   Wikidata; Q123033416
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   8Y
CA   Induced pluripotent stem cell
DT   Created: 29-06-23; Last updated: 30-01-24; Version: 3
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RX   PubMed=37087898; DOI=10.1016/j.scr.2023.103095; PMCID=PMC11068589;
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).
//