ID   DMBi002-A
AC   CVCL_B3NY
SY   SMA6.26
DR   hPSCreg; DMBi002-A
DR   Wikidata; Q110432775
RX   PubMed=34678665;
CC   From: Department of Medical Biotechnology, Jagiellonian University; Krakow; Poland.
CC   Population: Caucasian.
CC   Sequence variation: Gene amplification; HGNC; 11118; SMN2; Triplication; Zygosity=Unspecified (PubMed=34678665).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C118847; Spinal muscular atrophy type 3
DI   ORDO; Orphanet_83419; Proximal spinal muscular atrophy type 3
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34678665; DOI=10.1016/j.scr.2021.102563;
RA   Andrysiak K., Martyniak A., Potulska-Chromik A., Kostera-Pruszczyk A.,
RA   Stepniewski J., Dulak J.;
RT   "Generation of DMBi002-A human induced pluripotent stem cell line from
RT   patient with spinal muscular atrophy type 3.";
RL   Stem Cell Res. 57:102563-102563(2021).
//