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Cellosaurus GM04594 (CVCL_GY21)

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Cell line name GM04594
Accession CVCL_GY21
Resource Identification Initiative To cite this cell line use: GM04594 (RRID:CVCL_GY21)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4283; GJB1; Simple; p.Val139Met (c.415G>A); ClinVar=VCV000010433; Zygosity=Heterozygous (Coriell=GM04594).
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 Children:
CVCL_QX60 (KUCFRi001-A)
Sex of cell Female
Age at sampling 36Y
Category Finite cell line
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

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=28677541; DOI=10.1016/j.scr.2017.03.006
Daryeon Son, Phil Jun Kang, Wonjin Yun, Seungkwon You;
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 collections (Providers) Coriell; GM04594
Cell line databases/resources CLO; CLO_0018888
Encyclopedic resources Wikidata; Q54838580
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number16