ID   CCMi001-A
AC   CVCL_VE07
SY   CCMi001DMD-A-3; CCMi001DMD-A-3 delta49 delta50; DMD1c3; DMD1
DR   BioSamples; SAMEA113987027
DR   hPSCreg; CCMi001-A
DR   Wikidata; Q54808983
RX   PubMed=29127875;
CC   From: Centro Cardiologico Monzino; Milan; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Unexplicit; Ex49-50del; Zygosity=Hemizygous (PubMed=29127875).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=29127875
ST   Amelogenin: X,Y
ST   CSF1PO: 10,11
ST   D13S317: 10,14
ST   D16S539: 10,12
ST   D18S51: 15
ST   D19S433: 14
ST   D21S11: 29,30
ST   D2S1338: 17,18
ST   D3S1358: 17,18
ST   D5S818: 13
ST   D7S820: 8,12
ST   D8S1179: 14
ST   FGA: 21,23
ST   Penta D: 11
ST   Penta E: 11,13
ST   TH01: 7,9.3
ST   TPOX: 8,9
ST   vWA: 14,17
DI   NCIt; C75482; Duchenne muscular dystrophy
DI   ORDO; Orphanet_98896; Duchenne muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   34Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 30-01-24; Version: 11
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RX   PubMed=29127875; DOI=10.1016/j.scr.2017.10.018;
RA   Spaltro G., Vigorelli V., Casalnuovo F., Spinelli P., Castiglioni E.,
RA   Rovina D., Paganini S., Di Segni M., Nigro P., Gervasini C.,
RA   Pompilio G., Gowran A.;
RT   "Derivation of the Duchenne muscular dystrophy patient-derived induced
RT   pluripotent stem cell line lacking DMD exons 49 and 50
RT   (CCMi001DMD-A-3, delta49, delta50).";
RL   Stem Cell Res. 25:128-131(2017).
//