ID   SDQLCHi004-A
AC   CVCL_XI74
DR   hPSCreg; SDQLCHi004-A
DR   Wikidata; Q98129450
RX   PubMed=31526942;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 12011; TPM2; Simple; p.Arg133Trp (c.397C>T); ClinVar=VCV000012463; Zygosity=Heterozygous (PubMed=31526942).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C164225; Nemaline myopathy 4
DI   ORDO; Orphanet_171436; Typical nemaline myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3M
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=31526942; DOI=10.1016/j.scr.2019.101559;
RA   Ma Y.-Y., Zhang H.-Y., Yang X.-M., Li Y., Guan J.-Y., Lv Y.-Q.,
RA   Li H.-Y., Liu Y., Gai Z.-T.;
RT   "Establishment of a human induced pluripotent stem cell line
RT   (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease
RT   carrying heterozygous mutation in TPM2 gene.";
RL   Stem Cell Res. 40:101559-101559(2019).
//