ID   SDQLCHi025-A
AC   CVCL_ZC33
DR   hPSCreg; SDQLCHi025-A
DR   SKIP; SKIP005787
DR   Wikidata; Q98129489
RX   PubMed=32272370;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 10483; RYR1; Simple; p.Ser388Leu (c.1163C>T); ClinVar=VCV000579011; Zygosity=Heterozygous (PubMed=32272370).
CC   Sequence variation: Mutation; HGNC; 10483; RYR1; Simple; p.Phe4808Asn (c.14422_14423inv) (c.14422_14423delTTinsAA); ClinVar=VCV000478199; Zygosity=Heterozygous (PubMed=32272370).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C150608; Minicore myopathy with external ophthalmoplegia
DI   ORDO; Orphanet_98905; Congenital multicore myopathy with external ophthalmoplegia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32272370; DOI=10.1016/j.scr.2020.101775;
RA   Zhang H.-Y., Ma Y.-Y., Lv Y.-Q., Wan Y., Zhao Q.-L., Gai Z.-T., Liu Y.;
RT   "An integration-free iPSC line SDQLCHi025-A from a girl with
RT   multiminicore disease carrying compound heterozygote mutations in RYR1
RT   gene.";
RL   Stem Cell Res. 45:101775-101775(2020).
//