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Cellosaurus GM23721 (CVCL_M916)

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Cell line name GM23721
Accession CVCL_M916
Resource Identification Initiative To cite this cell line use: GM23721 (RRID:CVCL_M916)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7225; MPZ; Simple; p.Ser140Thr (c.418T>A); ClinVar=VCV000447730; Zygosity=Heterozygous (Coriell=GM23721).
Disease Charcot-Marie-Tooth disease type 1B (NCIt: C118782)
Charcot-Marie-Tooth disease type 1B (ORDO: Orphanet_101082)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_QX72 (KUCFRi002-A)
Sex of cell Female
Age at sampling 81Y
Category Transformed cell line
STR profile Source(s): PubMed=29034895

Markers:
AmelogeninX
CSF1PO11,12
D2S133822,25
D3S135817,18
D5S81811,12
D7S82010
D8S117915
D13S31710,11
D16S53912
D18S5115
D19S43314,15
D21S1130,32.2
FGA21
Penta D9,13
Penta E7,15
TH019.3
TPOX10,11
vWA14,15

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Publications

PubMed=29034895; DOI=10.1016/j.scr.2017.08.002
Daryeon Son, Phil Jun Kang, Wonjin Yun, Seungkwon You;
Generation of induced pluripotent stem cell (iPSC) line from Charcot-Marie-Tooth disease patient with MPZ mutation (CMT1B).
Stem Cell Res. 24:5-7(2017)

Cross-references
Cell line collections (Providers) Coriell; GM23721
Encyclopedic resources Wikidata; Q54853265
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number15