ID   CCMi002-A
AC   CVCL_RV17
SY   CCMi002BMD-A-9; CCMi002BMD-A-9 delta45-55; BMD1 c.9; BMD1
DR   hPSCreg; CCMi002-A
DR   Wikidata; Q54808984
RX   PubMed=29414413;
CC   From: Centro Cardiologico Monzino; Milan; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Unexplicit; Ex45-55del; Zygosity=Hemizygous (PubMed=29414413).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=29414413
ST   Amelogenin: X,Y
ST   CSF1PO: 12
ST   D13S317: 8,11
ST   D16S539: 12
ST   D18S51: 12,14
ST   D19S433: 15,15.2
ST   D21S11: 30.2,31.2
ST   D2S1338: 23,25
ST   D3S1358: 15,16
ST   D5S818: 10,13
ST   D7S820: 8,9
ST   D8S1179: 14
ST   FGA: 24,26
ST   Penta D: 8,10
ST   Penta E: 5,11
ST   TH01: 9,9.3
ST   TPOX: 8
ST   vWA: 15
DI   NCIt; C84587; Becker's muscular dystrophy
DI   ORDO; Orphanet_98895; Becker muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   26Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 10
//
RX   PubMed=29414413; DOI=10.1016/j.scr.2018.01.025;
RA   Gowran A., Spaltro G., Casalnuovo F., Vigorelli V., Spinelli P.,
RA   Castiglioni E., Rovina D., Paganini S., Di Segni M., Gervasini C.,
RA   Nigro P., Pompilio G.;
RT   "Generation of induced pluripotent stem cells from a Becker muscular
RT   dystrophy patient carrying a deletion of exons 45-55 of the dystrophin
RT   gene (CCMi002BMD-A-9 delta45-55).";
RL   Stem Cell Res. 28:21-24(2018).
//