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Cellosaurus SDQLCHi018-A (CVCL_YK79)

[Text version]
Cell line name SDQLCHi018-A
Accession CVCL_YK79
Resource Identification Initiative To cite this cell line use: SDQLCHi018-A (RRID:CVCL_YK79)
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; 9863; RAPSN; Simple; c.532-2A>G; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=33465529).
  • Mutation; HGNC; 9863; RAPSN; Simple; p.Asn88Lys (c.264C>A); ClinVar=VCV000008046; Zygosity=Heterozygous (PubMed=33465529).
Disease Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (NCIt: C177546)
Congenital myasthenic syndrome (ORDO: Orphanet_590)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 14D
Category Induced pluripotent stem cell
Publications

PubMed=33465529; DOI=10.1016/j.scr.2021.102160
Zhang H.-Y., Zhang H.-W., Ma Y.-Y., Lv Y.-Q., Gai Z.-T., Liu Y.
Generation and characterization of an induced pluripotent stem cell line SDQLCHi018-A from a congenital myasthenic syndrome patient carrying compound heterozygote mutations in RAPSN gene.
Stem Cell Res. 51:102160-102160(2021)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi018-A
Encyclopedic resources Wikidata; Q98129482
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number5