ID   SDQLCHi018-A
AC   CVCL_YK79
DR   hPSCreg; SDQLCHi018-A
DR   Wikidata; Q98129482
RX   PubMed=33465529;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 9863; RAPSN; Simple; c.532-2A>G; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=33465529).
CC   Sequence variation: Mutation; HGNC; 9863; RAPSN; Simple; p.Asn88Lys (c.264C>A); ClinVar=VCV000008046; Zygosity=Heterozygous (PubMed=33465529).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C177546; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
DI   ORDO; Orphanet_590; Congenital myasthenic syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   14D
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33465529; DOI=10.1016/j.scr.2021.102160;
RA   Zhang H.-Y., Zhang H.-W., Ma Y.-Y., Lv Y.-Q., Gai Z.-T., Liu Y.;
RT   "Generation and characterization of an induced pluripotent stem cell
RT   line SDQLCHi018-A from a congenital myasthenic syndrome patient
RT   carrying compound heterozygote mutations in RAPSN gene.";
RL   Stem Cell Res. 51:102160-102160(2021).
//