ID   INNDSUi003-A
AC   CVCL_C0JB
DR   BioSamples; SAMEA13935789
DR   hPSCreg; INNDSUi003-A
DR   Wikidata; Q112929867
RX   PubMed=35526387;
CC   From: Institute of Neuromuscular and Neurodegenerative Diseases, Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Simple; c.1483-2A>G; ClinVar=VCV001322654; Zygosity=Hemizygous; Note=Splice acceptor mutation (PubMed=35526387).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
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   32Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
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RX   PubMed=35526387; DOI=10.1016/j.scr.2022.102794;
RA   Ji X.-B., Wang Y., Sun P., Wang D.-D., Sun X.-H., Zhang R., Xu J.-W.,
RA   Li W., Liu F.-C., Yan C.-Z.;
RT   "Generation of a human induced pluripotent stem cell line
RT   (INNDSUi003-A) derived from patient with Becker muscular dystrophy
RT   (BMD).";
RL   Stem Cell Res. 62:102794-102794(2022).
//