ID   ICGi002-A
AC   CVCL_YK90
SY   DMD1_1
DR   BioSamples; SAMEA6098718
DR   hPSCreg; ICGi002-A
DR   SKIP; SKIP005821
DR   Wikidata; Q94313397
RX   PubMed=32777771;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Simple; c.2950-1G>C; Zygosity=Hemizygous; Note=Splice acceptor mutation (PubMed=32777771).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75482; Duchenne muscular dystrophy
DI   ORDO; Orphanet_98896; Duchenne muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YK91 ! ICGi002-B
OI   CVCL_YK92 ! ICGi002-C
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32777771; DOI=10.1016/j.scr.2020.101941;
RA   Valetdinova K.R., Maretina M.A., Vyatkin Y.V., Perepelkina M.P.,
RA   Egorova A.A., Baranov V.S., Kiselev A.V., Gershovich P.M.,
RA   Zakian S.M.;
RT   "Generation of three Duchenne muscular dystrophy patient-derived
RT   induced pluripotent stem cell (iPSC) lines ICGi002-A, ICGi002-B and
RT   ICGi002-C.";
RL   Stem Cell Res. 48:101941-101941(2020).
//