Cellosaurus cell line INNDSUi004-A (CVCL

Cross-references
Cell line name	INNDSUi004-A
Synonyms	20-235--F
Accession	CVCL_D6PQ
Resource Identification Initiative	To cite this cell line use: INNDSUi004-A (RRID:CVCL_D6PQ)
Comments	From: Institute of Neuromuscular and Neurodegenerative Diseases, Shandong University; Jinan; China. Population: Chinese; Han. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:12011; TPM2; Simple; p.Glu139del (c.412GAG[1]) (c.415-417delGAG); ClinVar=VCV000012465; Zygosity=Heterozygous (PubMed=38733812).
Disease	Nemaline myopathy 4 (NCIt: C164225) Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	13Y
Category	Induced pluripotent stem cell
Publications	PubMed=38733812; DOI=10.1016/j.scr.2024.103435 Ying-Xin Wang, Wen-Zhu Liu, Yi-Tong Yang, Yu Wang, Yao Tang, Ze-Xin Zhan, Xiao-Han Sun, Yi-Chang Jiao, Di-Di Shan, Rui Zhang, Dong-Dong Wang ...Show all 15 authors... , Ping Sun, Xiu-Lian Sun, Chuan-Zhu Yan, Fu-Chen Liu; Show fewer authors Establishment of an induced pluripotent stem cell (iPSC) line (INNDSUi004-A) from a patient with congenital nemaline myopathy. Stem Cell Res. 77:103435-103435(2024)
Cell line databases/resources	hPSCreg; INNDSUi004-A
Biological sample resources	BioSamples; SAMEA114804862
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2