ID   CIRAi005-A
AC   CVCL_ZA41
SY   F2KU1#4; F2KU1
DR   BioSamples; SAMEA6983572
DR   hPSCreg; CIRAi005-A
DR   Wikidata; Q98125626
RX   PubMed=30107443;
CC   From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 29090; SMCHD1; Simple; p.Val1373_Lys1377del (c.4118_4132del); Zygosity=Heterozygous (hPSCreg=CIRAi005-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C172705; Facioscapulohumeral muscular dystrophy 2
DI   ORDO; Orphanet_269; Facioscapulohumeral dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 5
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RX   PubMed=30107443; DOI=10.1093/hmg/ddy293;
RA   Sasaki-Honda M., Jonouchi T., Arai M., Hotta A., Mitsuhashi S.,
RA   Nishino I., Matsuda R., Sakurai H.;
RT   "A patient-derived iPSC model revealed oxidative stress increases
RT   facioscapulohumeral muscular dystrophy-causative DUX4.";
RL   Hum. Mol. Genet. 27:4024-4035(2018).
//