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Cellosaurus KUCFRi002-A (CVCL_QX72)

[Text version]
Cell line name KUCFRi002-A
Synonyms GM23721 iPSC
Accession CVCL_QX72
Resource Identification Initiative To cite this cell line use: KUCFRi002-A (RRID:CVCL_QX72)
Comments From: Department of Biotechnology, College of Life Sciences and Biotechnology, Korea University; Seoul; South Korea.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7225; MPZ; Simple; p.Ser140Thr (c.418T>A); ClinVar=VCV000447730; Zygosity=Heterozygous (PubMed=29034895).
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 Parent: CVCL_M916 (GM23721)
Sex of cell Female
Age at sampling 81Y
Category Induced pluripotent stem cell
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 databases/resources hPSCreg; KUCFRi002-A
Encyclopedic resources Wikidata; Q54900698
Entry history
Entry creation15-Nov-2017
Last entry update29-Jun-2023
Version number10