ID   iGPM-DM1
AC   CVCL_E9XN
RX   PubMed=38832025;
CC   Sequence variation: Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[280] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Unspecified (PubMed=38832025).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Genetic integration: Method=Transduction; Gene=MGI; MGI:88357; Cdk4.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P00552; Klebsiella pneumoniae transposon Tn5 neo.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; Streptomyces alboniger pac (PuroR).
CC   Donor information: Established from a patient suffering from late onset DM1 subtype.
CC   Derived from site: In situ; Muscle, left biceps brachii; UBERON=UBERON_0001507.
CC   Cell type: Myoblast; CL=CL_0000056.
ST   Source(s): PubMed=38832025
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 11
ST   D16S539: 12
ST   D18S51: 12,14
ST   D19S433: 12,13
ST   D21S11: 29,32.2
ST   D2S1338: 19,23
ST   D3S1358: 17
ST   D5S818: 10,12
ST   D7S820: 10,11
ST   D8S1179: 10,14
ST   FGA: 25,26
ST   TH01: 6
ST   TPOX: 8,12
ST   vWA: 15,18
DI   NCIt; C84679; Dystrophia myotonica 1
DI   ORDO; Orphanet_273; Steinert myotonic dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   46Y
CA   Telomerase immortalized cell line
DT   Created: 14-08-25; Last updated: 14-08-25; Version: 1
//
RX   PubMed=38832025; DOI=10.1016/j.isci.2024.109930; PMCID=PMC11144749;
RA   Nunez-Manchon, Judit
RA   Capo, Julia
RA   Martinez-Pineiro, Alicia
RA   Juanola, Eduard
RA   Pesovic, Jovan
RA   Mosqueira-Martin, Laura
RA   Gonzalez-Imaz, Klaudia
RA   Maestre-Mora, Pau
RA   Odria, Renato
RA   Cerro-Herreros, Estefania
RA   Naldaiz-Gastesi, Neia
RA   Lopez de Munain, Adolfo
RA   Artero, Ruben
RA   Savic-Pavicevic, Dusanka
RA   Vallejo-Illarramendi, Ainara
RA   Mamchaoui, Kamel
RA   Bigot, Anne
RA   Mouly, Vincent
RA   Suelves, Monica
RA   Nogales-Gadea, Gisela
RT   "Immortalized human myotonic dystrophy type 1 muscle cell lines to
RT   address patient heterogeneity.";
RL   iScience 27:109930.1-109930.23(2024).
//