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Cellosaurus SDQLCHi017-A (CVCL_YK78)

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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 site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7720; NEB; Simple; c.6915+1G>T; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=32062132).
  • Mutation; HGNC; 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
Yan-Yan Ma, Hai-Yan Zhang, Xiao-Mei Li, Xiao-Meng Yang, Yue Li, Jing-Yun Guan, Yu-Qiang Lv, Zhong-Tao Gai, Yi Liu;
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 update19-Dec-2024
Version number8