Cellosaurus cell line SDQLCHi004-A (CVCL

Cross-references
Cell line name	SDQLCHi004-A
Accession	CVCL_XI74
Resource Identification Initiative	To cite this cell line use: SDQLCHi004-A (RRID:CVCL_XI74)
Comments	From: Qilu Children's Hospital of Shandong University; Jinan; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:12011; TPM2; Simple; p.Arg133Trp (c.397C>T); ClinVar=VCV000012463; Zygosity=Heterozygous (PubMed=31526942).
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	3M
Category	Induced pluripotent stem cell
Publications	PubMed=31526942; DOI=10.1016/j.scr.2019.101559 Yan-Yan Ma, Hai-Yan Zhang, Xiao-Meng Yang, Yue Li, Jing-Yun Guan, Yu-Qiang Lv, Hong-Ying Li, Yi Liu, Zhong-Tao Gai; Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene. Stem Cell Res. 40:101559-101559(2019)
Cell line databases/resources	hPSCreg; SDQLCHi004-A
Encyclopedic resources	Wikidata; Q98129450
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	8