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Cellosaurus iJCC-DM1 (CVCL_E9XP)

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Cell line name iJCC-DM1
Accession CVCL_E9XP
Resource Identification Initiative To cite this cell line use: iJCC-DM1 (RRID:CVCL_E9XP)
Comments Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
Genetic integration: Method=Transduction; Gene=MGI; MGI:88357; Cdk4.
Genetic integration: Method=Transduction; Gene=UniProtKB; P00552; Klebsiella pneumoniae transposon Tn5 neo.
Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; Streptomyces alboniger pac (PuroR).
Donor information: Established from a patient suffering from juvenile DM1 subtype.
Derived from site: In situ; Muscle, left biceps brachii; UBERON=UBERON_0001507.
Cell type: Myoblast; CL=CL_0000056.
Sequence variations
  • Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[654] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Unspecified (PubMed=38832025).
Disease Dystrophia myotonica 1 (NCIt: C84679)
Steinert myotonic dystrophy (ORDO: Orphanet_273)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 36Y
Category Telomerase immortalized cell line
STR profile Source(s): PubMed=38832025

Markers:
AmelogeninX
CSF1PO10,11
D2S133817,19
D3S135817,18
D5S81811,13
D7S8208,10
D8S117913
D13S3178,10
D16S53912,13
D18S5112,15
D19S43313,15
D21S1131,32.2
FGA20,21
TH016
TPOX9,11
vWA14,16

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Publications

PubMed=38832025; DOI=10.1016/j.isci.2024.109930; PMCID=PMC11144749
Judit Nunez-Manchon, Julia Capo, Alicia Martinez-Pineiro, Eduard Juanola, Jovan Pesovic, Laura Mosqueira-Martin, Klaudia Gonzalez-Imaz, Pau Maestre-Mora, Renato Odria, Estefania Cerro-Herreros, Neia Naldaiz-Gastesi ...Show all 20 authors... , Adolfo Lopez de Munain, Ruben Artero, Dusanka Savic-Pavicevic, Ainara Vallejo-Illarramendi, Kamel Mamchaoui, Anne Bigot, Vincent Mouly, Monica Suelves, Gisela Nogales-Gadea; Show fewer authors
Immortalized human myotonic dystrophy type 1 muscle cell lines to address patient heterogeneity.
iScience 27:109930.1-109930.23(2024)

Entry history
Entry creation14-Aug-2025
Last entry update14-Aug-2025
Version number1