ID   SDQLCHi017-A
AC   CVCL_YK78
DR   hPSCreg; SDQLCHi017-A
DR   SKIP; SKIP005691
DR   Wikidata; Q98129481
RX   PubMed=32062132;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 7720; NEB; Simple; c.6915+1G>T; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=32062132).
CC   Sequence variation: Mutation; HGNC; 7720; NEB; Simple; c.14910+3G>C; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=32062132).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C118784; Nemaline myopathy 2
DI   ORDO; Orphanet_171436; Typical nemaline myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1M
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32062132; DOI=10.1016/j.scr.2020.101729;
RA   Ma Y.-Y., Zhang H.-Y., Li X.-M., Yang X.-M., Li Y., Guan J.-Y.,
RA   Lv Y.-Q., Gai Z.-T., Liu Y.;
RT   "An integration-free iPSC line (SDQLCHi017-A) derived from a patient
RT   with nemaline myopathy-2 disease carrying compound heterozygote
RT   mutations in NEB gene.";
RL   Stem Cell Res. 43:101729-101729(2020).
//