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Cellosaurus 522-2666 (CVCL_RL74)

[Text version]
Cell line name 522-2666
Accession CVCL_RL74
Resource Identification Initiative To cite this cell line use: 522-2666 (RRID:CVCL_RL74)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[~200] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (PubMed=29274549).
Disease Dystrophia myotonica 1 (NCIt: C84679)
Steinert myotonic dystrophy (ORDO: Orphanet_273)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_RL75 (CHUQi001-A)
Sex of cell Male
Age at sampling 26Y
Category Transformed cell line
Publications

PubMed=29274549; DOI=10.1016/j.scr.2017.12.010
Martineau L., Racine V., Benichou S.A., Puymirat J.
Lymphoblastoids cell lines -- derived iPSC line from a 26-year-old myotonic dystrophy type 1 patient carrying (CTG)200 expansion in the DMPK gene: CHUQi001-A.
Stem Cell Res. 26:103-106(2018)

Cross-references
Encyclopedic resources Wikidata; Q54603717
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number9