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Cellosaurus KUCFRi001-A (CVCL_QX60)

[Text version]
Cell line name KUCFRi001-A
Synonyms GM04594 iPSC
Accession CVCL_QX60
Resource Identification Initiative To cite this cell line use: KUCFRi001-A (RRID:CVCL_QX60)
Comments From: Department of Biotechnology, College of Life Sciences and Biotechnology, Korea University; Seoul; South Korea.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4283; GJB1; Simple; p.Val139Met (c.415G>A); ClinVar=VCV000010433; Zygosity=Heterozygous (PubMed=28677541).
Disease Charcot-Marie-Tooth neuropathy X type 1 (NCIt: C129068)
X-linked Charcot-Marie-Tooth disease type 1 (ORDO: Orphanet_101075)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_GY21 (GM04594)
Sex of cell Female
Age at sampling 36Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=28677541

Markers:
AmelogeninX
CSF1PO10,11
D2S133819,24
D3S135811,17
D5S81810,13
D7S82010,11
D8S117913,14
D13S31712,13
D16S53913
D18S5112
D19S43313,16
D21S1129,32.2
FGA20,21
Penta D11,15
Penta E7,17
TH017,9
TPOX8,11
vWA16,17

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Publications

PubMed=28677541; DOI=10.1016/j.scr.2017.03.006
Son D., Kang P.J., Yun W., You S.
Generation of induced pluripotent stem cell (iPSC) line from a 36-year-old Charcot-Marie-Tooth disease patient with GJB1 mutation (CMTX).
Stem Cell Res. 21:9-12(2017)

Cross-references
Cell line databases/resources hPSCreg; KUCFRi001-A
Encyclopedic resources Wikidata; Q54900697
Entry history
Entry creation15-Nov-2017
Last entry update29-Jun-2023
Version number12