Cellosaurus cell line INNDSUi003-A (CVCL

Cross-references
Cell line name	INNDSUi003-A
Accession	CVCL_C0JB
Resource Identification Initiative	To cite this cell line use: INNDSUi003-A (RRID:CVCL_C0JB)
Comments	From: Institute of Neuromuscular and Neurodegenerative Diseases, Shandong University; Jinan; China. Population: Chinese; Han. Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:2928; DMD; Simple; c.1483-2A>G; ClinVar=VCV001322654; Zygosity=Hemizygous; Note=Splice acceptor mutation (PubMed=35526387).
Disease	Becker's muscular dystrophy (NCIt: C84587) Becker muscular dystrophy (ORDO: Orphanet_98895)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	32Y
Category	Induced pluripotent stem cell
Publications	PubMed=35526387; DOI=10.1016/j.scr.2022.102794 Ji X.-B., Wang Y., Sun P., Wang D.-D., Sun X.-H., Zhang R., Xu J.-W., Li W., Liu F.-C., Yan C.-Z. Generation of a human induced pluripotent stem cell line (INNDSUi003-A) derived from patient with Becker muscular dystrophy (BMD). Stem Cell Res. 62:102794-102794(2022)
Cell line databases/resources	hPSCreg; INNDSUi003-A
Biological sample resources	BioSamples; SAMEA13935789
Encyclopedic resources	Wikidata; Q112929867
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5