Cellosaurus cell line FJMUNi001-A (CVCL

Cross-references
Cell line name	FJMUNi001-A
Accession	CVCL_C0FR
Resource Identification Initiative	To cite this cell line use: FJMUNi001-A (RRID:CVCL_C0FR)
Comments	From: Department of Neurology, Fujian Institute of Neurology, First Affiliated Hospital, Fujian Medical University; Fuzhou; China. Population: Chinese; Han. Caution: Indicated in PubMed=35247844 both as being established from a 8 year old and a 10 year old boy. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:2928; DMD; Simple; c.4518+512T>A; Zygosity=Hemizygous; Note=Induces a cryptic exon activation (PubMed=35247844).
Disease	Duchenne muscular dystrophy (NCIt: C75482) Duchenne muscular dystrophy (ORDO: Orphanet_98896)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	8-10Y
Category	Induced pluripotent stem cell
Publications	PubMed=35247844; DOI=10.1016/j.scr.2022.102718 Jin M., Wang D., Li G.-L., Lin J.-J., Lin X., Wang N. Generation and characterization of an induced pluripotent stem cell line (FJMUNi001-A) from a patient with Duchenne muscular dystrophy carrying c.4518 + 512 T > A variant in the DMD gene. Stem Cell Res. 60:102718-102718(2022)
Cell line databases/resources	hPSCreg; FJMUNi001-A
Biological sample resources	BioSamples; SAMEA12095262
Encyclopedic resources	Wikidata; Q112929563
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5