ID   CIRAi005-A-1
AC   CVCL_ZA42
SY   IsC2-F2KU1#4; IsC-F2KU1; CIRAi005-B
DR   BioSamples; SAMEA7001537
DR   EBiSC; CIRAi005-A-1
DR   ECACC; 66770001
DR   hPSCreg; CIRAi005-A-1
DR   Wikidata; Q98125627
CC   From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 29090; SMCHD1; Simple_corrected; p.Val1373_Lys1377del (c.4118_4132del); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (hPSCreg=CIRAi005-A-1).
CC   Discontinued: ECACC; 66770001; true.
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)
HI   CVCL_ZA41 ! CIRAi005-A
SX   Female
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 30-01-24; Version: 6
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