ID   SHETi004-A
AC   CVCL_D0LM
DR   BioSamples; SAMEA114221411
DR   hPSCreg; SHETi004-A
DR   Wikidata; Q123033492
RX   PubMed=37931536;
CC   From: Department of Cardiology, Shanghai Children's Hospital, Shanghai Jiaotong University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2770; DES; Simple; p.Thr453Ile (c.1358C>T); ClinVar=VCV000066401; Zygosity=Heterozygous (PubMed=37931536).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=37931536
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D10S1248: 13,14
ST   D12S391: 23,24
ST   D13S317: 12
ST   D16S539: 9,11
ST   D18S51: 14,15
ST   D19S433: 12,15.2
ST   D21S11: 28,30
ST   D2S1338: 16,23
ST   D3S1358: 16,17
ST   D5S818: 10,11
ST   D6S1043: 11,14
ST   D7S820: 10,11
ST   D8S1179: 11,12
ST   FGA: 20,24
ST   Penta D: 9,11
ST   Penta E: 11,19
ST   TH01: 9
ST   TPOX: 8,11
ST   vWA: 14,16
DI   NCIt; C83009; Myofibrillar myopathy
DI   ORDO; Orphanet_98909; Desminopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=37931536; DOI=10.1016/j.scr.2023.103227;
RA   Wang T.-X., Hou S., Chen J., Zhao X.-P., Xiao T.-T., Hou C.-L.,
RA   Zhou C.-Z.;
RT   "Generation of an induced pluripotent stem cell line (SHETi004-A) from
RT   a Chinese Han child with left bundle branch block.";
RL   Stem Cell Res. 73:103227-103227(2023).
//