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Cellosaurus SDQLCHi017-A (CVCL_YK78)

[Text version]

Cell line name SDQLCHi017-A
Accession CVCL_YK78
Resource Identification Initiative To cite this cell line use: SDQLCHi017-A (RRID:CVCL_YK78)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 7720; NEB; Simple; c.6915+1G>T; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=32062132).
  • Mutation; HGNC; 7720; NEB; Simple; c.14910+3G>C; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=32062132).
Disease Nemaline myopathy 2 (NCIt: C118784)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1M
Category Induced pluripotent stem cell
Publications

PubMed=32062132; DOI=10.1016/j.scr.2020.101729
Ma Y.-Y., Zhang H.-Y., Li X.-M., Yang X.-M., Li Y., Guan J.-Y., Lv Y.-Q., Gai Z.-T., Liu Y.
An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene.
Stem Cell Res. 43:101729-101729(2020)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi017-A
SKIP; SKIP005691
Encyclopedic resources Wikidata; Q98129481
Entry history
Entry creation19-Dec-2019
Last entry update20-May-2021
Version number5