ID   IITi001-A
AC   CVCL_VD72
SY   29.2
DR   hPSCreg; IITi001-A
DR   Wikidata; Q54897448
RX   PubMed=29653394;
CC   From: Technion - Israel Institute of Technology; Haifa; Israel.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Unexplicit; Ex45-50del; Zygosity=Hemizygous (PubMed=29653394).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=29653394
ST   Amelogenin: X,Y
ST   CSF1PO: 11
ST   D10S1248: 13,15
ST   D12S391: 17,20
ST   D13S317: 12,13
ST   D16S539: 11,13
ST   D18S51: 12,13
ST   D19S433: 12,13
ST   D1S1656: 15,16.3
ST   D21S11: 30,31
ST   D22S1045: 15,17
ST   D2S1338: 22,23
ST   D2S441: 14
ST   D3S1358: 17,18
ST   D5S818: 12,13
ST   D7S820: 9,10
ST   D8S1179: 13,14
ST   DYS391: 9
ST   FGA: 18,22
ST   Penta D: 11,13
ST   Penta E: 7,18
ST   TH01: 6,7
ST   TPOX: 8,10
ST   vWA: 17,18
DI   NCIt; C75482; Duchenne muscular dystrophy
DI   ORDO; Orphanet_98896; Duchenne muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 8
//
RX   PubMed=29653394; DOI=10.1016/j.scr.2018.03.023;
RA   Eisen B., Ben Jehuda R., Cuttitta A.J., Mekies L.N., Reiter I.,
RA   Ramchandren S., Arad M., Michele D.E., Binah O.;
RT   "Generation of Duchenne muscular dystrophy patient-specific induced
RT   pluripotent stem cell line lacking exons 45-50 of the dystrophin gene
RT   (IITi001-A).";
RL   Stem Cell Res. 29:111-114(2018).
//