Cellosaurus cell line SDQLCHi025-A (CVCL

Cross-references
Cell line name	SDQLCHi025-A
Accession	CVCL_ZC33
Resource Identification Initiative	To cite this cell line use: SDQLCHi025-A (RRID:CVCL_ZC33)
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:10483; RYR1; Simple; p.Ser388Leu (c.1163C>T); ClinVar=VCV000579011; Zygosity=Heterozygous (PubMed=32272370). Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Phe4808Asn (c.14422_14423inv) (c.14422_14423delTTinsAA); ClinVar=VCV000478199; Zygosity=Heterozygous (PubMed=32272370).
Disease	Minicore myopathy with external ophthalmoplegia (NCIt: C150608) Congenital multicore myopathy with external ophthalmoplegia (ORDO: Orphanet_98905)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	8Y
Category	Induced pluripotent stem cell
Publications	PubMed=32272370; DOI=10.1016/j.scr.2020.101775 Hai-Yan Zhang, Yan-Yan Ma, Yu-Qiang Lv, Ya Wan, Quan-Li Zhao, Zhong-Tao Gai, Yi Liu; An integration-free iPSC line SDQLCHi025-A from a girl with multiminicore disease carrying compound heterozygote mutations in RYR1 gene. Stem Cell Res. 45:101775-101775(2020)
Cell line databases/resources	hPSCreg; SDQLCHi025-A SKIP; SKIP005787
Encyclopedic resources	Wikidata; Q98129489
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7