Cellosaurus logo
expasy logo

Cellosaurus GM23721 (CVCL_M916)

[Text version]
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

Run an STR similarity search on this cell line
Publications

PubMed=29034895; DOI=10.1016/j.scr.2017.08.002
Son D., Kang P.J., Yun W., You S.
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