ID   DMBi009-A
AC   CVCL_D6HJ
DR   BioSamples; SAMEA114789052
DR   hPSCreg; DMBi009-A
DR   Wikidata; Q127380796
RX   PubMed=38324931;
CC   From: Department of Medical Biotechnology, Jagiellonian University; Krakow; Poland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Unexplicit; Ex3-9del; Zygosity=Hemizygous (PubMed=38324931).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84587; Becker's muscular dystrophy
DI   ORDO; Orphanet_98895; Becker muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   20Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38324931; DOI=10.1016/j.scr.2024.103327;
RA   Przymuszala M., Martyniak A., Kwiatkowska J., Meyer-Szary J.,
RA   Sledzinska K., Wierzba J., Dulak J., Florczyk-Soluch U.,
RA   Stepniewski J.;
RT   "Generation of human induced pluripotent stem cell line derived from
RT   Becker muscular dystrophy patient with CRISPR/Cas9-mediated
RT   correction of DMD gene mutation.";
RL   Stem Cell Res. 76:103327-103327(2024).
//