ID   MUNIi001-A
AC   CVCL_9S28
SY   DMD02
DR   BioSamples; SAMEA5466088
DR   hPSCreg; MUNIi001-A
DR   SKIP; SKIP002569
DR   Wikidata; Q54907085
RX   PubMed=30650618;
RX   PubMed=31526943;
CC   From: Masaryk University; Brno; Czech Republic.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Unexplicit; Ex45-50del; Zygosity=Hemizygous (PubMed=30650618; PubMed=31526943).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75482; Duchenne muscular dystrophy
DI   ORDO; Orphanet_98896; Duchenne muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 11
//
RX   PubMed=30650618; DOI=10.3390/cells8010053;
RA   Jelinkova S., Fojtik P., Kohutova A., Vilotic A., Markova L., Pesl M.,
RA   Jurakova T., Kruta M., Vrbsky J., Gaillyova R., Valaskova I., Frak I.,
RA   Lacampagne A., Forte G., Dvorak P., Meli A.C., Rotrekl V.;
RT   "Dystrophin deficiency leads to genomic instability in human
RT   pluripotent stem cells via NO synthase-induced oxidative stress.";
RL   Cells 8:53.1-53.22(2019).
//
RX   PubMed=31526943; DOI=10.1016/j.scr.2019.101562;
RA   Jelinkova S., Markova L., Pesl M., Valaskova I., Makaturova E.,
RA   Jurikova L., Vondracek P., Lacampagne A., Dvorak P., Meli A.C.,
RA   Rotrekl V.;
RT   "Generation of two Duchenne muscular dystrophy patient-specific
RT   induced pluripotent stem cell lines DMD02 and DMD03 (MUNIi001-A and
RT   MUNIi003-A).";
RL   Stem Cell Res. 40:101562-101562(2019).
//