ID   CIRAi006-A
AC   CVCL_ZA43
SY   F2KU2#17; F2KU2
DR   BioSamples; SAMEA7001538
DR   hPSCreg; CIRAi006-A
DR   Wikidata; Q98125628
RX   PubMed=32711388;
CC   From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:29090; SMCHD1; Simple; p.Lys607Ter (c.1819A>T); Zygosity=Heterozygous (PubMed=32711388).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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: 19-12-24; Version: 7
//
RX   PubMed=32711388; DOI=10.1016/j.scr.2020.101884;
RA   Sasaki-Honda M., Kagita A., Jonouchi T., Araki T., Hotta A.,
RA   Sakurai H.;
RT   "Generation of a transgene-free iPSC line and genetically modified
RT   line from a facioscapulohumeral muscular dystrophy type 2 (FSHD2)
RT   patient with SMCHD1 p.Lys607Ter mutation.";
RL   Stem Cell Res. 47:101884-101884(2020).
//