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Cellosaurus SDQLCHi025-A (CVCL_ZC33)

[Text version]
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; 10483; RYR1; Simple; p.Ser388Leu (c.1163C>T); ClinVar=VCV000579011; Zygosity=Heterozygous (PubMed=32272370).
  • Mutation; 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

PubMed=32272370; DOI=10.1016/j.scr.2020.101775
Zhang H.-Y., Ma Y.-Y., Lv Y.-Q., Wan Y., Zhao Q.-L., Gai Z.-T., Liu Y.
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 creation02-Jul-2020
Last entry update29-Jun-2023
Version number6