ID   CCMi004-A
AC   CVCL_YB96
SY   BMD3 c.13; BMD3 C13
DR   hPSCreg; CCMi004-A
DR   Wikidata; Q93445533
RX   PubMed=32348941;
CC   From: Centro Cardiologico Monzino; Milan; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Simple; c.1705-8T>C; Zygosity=Hemizygous; Note=Splicing mutation (PubMed=32348941).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84587; Becker's muscular dystrophy
DI   ORDO; Orphanet_98895; Becker muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32348941; DOI=10.1016/j.scr.2020.101819;
RA   Rovina D., Castiglioni E., Niro F., Farini A., Belicchi M.,
RA   Di Fede E., Gervasini C., Paganini S., Di Segni M., Torrente Y.,
RA   Santoro R., Pompilio G., Gowran A.;
RT   "Generation of the Becker muscular dystrophy patient derived induced
RT   pluripotent stem cell line carrying the DMD splicing mutation
RT   c.1705-8T>C.";
RL   Stem Cell Res. 45:101819-101819(2020).
//