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GM00321 Fibroblast from Skin, Arm

Description:

XXXY AND XXXXY SYNDROME
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC

Affected:

No

Sex:

Female

Age:

40 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Apparently Healthy Collection
Biopsy Source Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Arm
Race White
Ethnicity Sardinian
Country of Origin USA
Family Member 2
Relation to Proband mother
Confirmation Karyotypic analysis and Case history
ISCN 46,XX,der(2)t(2;2)(2qter->2q13::2p25->2qter)[7]/46,XX[9].arr(1-22,X)x2
Species Homo sapiens
Common Name Human
Remarks Unaffected mother of affected child (GM00326) and unaffected child (GM00323); normal RBC G6PD level; Xg(a) antigen positive; initial karyotype analysis reveals subject is 46,XX with random chromosome losses seen in 12% of cells, random chromosome gains seen in 2% of cells, and random chromosome aberrations seen in 2% of cells;

Characterizations

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PDL at Freeze 5.2
Passage Frozen 5
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 

Phenotypic Data

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Remarks Unaffected mother of affected child (GM00326) and unaffected child (GM00323); normal RBC G6PD level; Xg(a) antigen positive; initial karyotype analysis reveals subject is 46,XX with random chromosome losses seen in 12% of cells, random chromosome gains seen in 2% of cells, and random chromosome aberrations seen in 2% of cells;

Publications

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Alowaysi M, Fiacco E, Astro V, Adamo A, Establishment of iPSC lines from a high-grade Klinefelter Syndrome patient (49-XXXXY) and two genetically matched healthy relatives (KAUSTi003-A, KAUSTi004-A, KAUSTi004-B, KAUSTi005-A, KAUSTi005-B, KAUSTi005-C) Stem cell research49:102008 2020
PubMed ID: 32987351
 
Zhou K, Dichlberger A, Ikonen E, Blom T, Lysosome Associated Protein Transmembrane 4B (LAPTM4B)-24 is the predominant protein isoform in human tissues and undergoes rapid, nutrient-regulated turnover The American journal of pathology49:102008 2020
PubMed ID: 32679228
 
Al-Saaidi RA1, Rasmussen TB2, Birkler RID1, Palmfeldt J1, Beqqali A3, Pinto YM4, Nissen PH5, Baandrup U6, Mølgaard H2, Hey TM7, Eiskjaer H2, Bross P1, Mogensen J7., The clinical outcome of LMNA missense mutations appears to be associated with the amount of mutated protein in the nuclear envelope. European Journal of Heart Failure 49:102008 2018
PubMed ID: 29943882
 
Visentin S, De Nuccio C, Bernardo A, Pepponi R, Ferrante A, Minghetti L, Popoli P, The stimulation of adenosine A2A receptors ameliorates the pathological phenotype of fibroblasts from Niemann-Pick type C patients The Journal of neuroscience : the official journal of the Society for Neuroscience33:15388-93 2013
PubMed ID: 24068806
 
Artlett CM1, Sassi-Gaha S, Rieger JL, Boesteanu AC, Feghali-Bostwick CA, Katsikis PD., The inflammasome activating caspase 1 mediates fibrosis and myofibroblast differentiation in systemic sclerosis. Arthritis Rheum63(11):3563-74 2011
PubMed ID: 21792841
 
Loughlin DT1, Artlett CM., Modification of collagen by 3-deoxyglucosone alters wound healing through differential regulation of p38 MAP kinase. PLoS One6(5):3563-74 2011
PubMed ID: 21573155
 
Treff NR, Su J, Tao X, Northrop LE, Scott RT, Single-cell whole-genome amplification technique impacts the accuracy of SNP microarray-based genotyping and copy number analyses Molecular human reproduction17:335-43 2010
PubMed ID: 21177337
 
O'Leary DA, Vargas L, Sharif O, Garcia ME, Sigal YJ, Chow SK, Schmedt C, Caldwell JS, Brinker A, Engels IH, HTS-Compatible Patient-Derived Cell-Based Assay to Identify Small Molecule Modulators of Aberrant Splicing in Myotonic Dystrophy Type 1 Current chemical genomics4:9-18 2009
PubMed ID: 20502647
 
Sassi-Gaha S, Loughlin DT, Kappler F, Schwartz ML, Su B, Tobia AM, Artlett CM, Two dicarbonyl compounds, 3-deoxyglucosone and methylglyoxal, differentially modulate dermal fibroblasts Matrix biology : journal of the International Society for Matrix Biology29:127-34 2009
PubMed ID: 19800404
 
Treff NR, Su J, Tao X, Levy B, Scott RT, Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays Fertility and sterility94:2017-21 2009
PubMed ID: 20188357
 
Abdullah, K.M., Abdullah, A., Johnson, M.L., Bilski, J.J., Petry, K., Redmer, D.A., Reynolds, L.P., and Grazul-Bilska, A.T., Effects of Aloe vera on Gap Junctional Intercellular Communication and Proliferation of Human Diabetic and Nondiabetic Skin Fibroblasts J Alternative and Complementary Med9(5):711-718 2003
PubMed ID: 14629848
 
Oliver CN, Ahn BW, Moerman EJ, Goldstein S, Stadtman ER, Age-related changes in oxidized proteins. J Biol Chem262:5488-91 1987
PubMed ID: 3571220
 
Goldman D, Goldin LR, Rathnagiri P, O'Brien SJ, Egeland JA, Merril CR, Twenty-seven protein polymorphisms by two-dimensional electrophoresis of serum, erythrocytes, and fibroblasts in two pedigrees. Am J Hum Genet37:898-911 1985
PubMed ID: 3863481

External Links

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GEO GEO Accession No: GSM520733
GEO Accession No: GSM520734
GEO Accession No: GSM520735
GEO Accession No: GSM520736
GEO Accession No: GSM520737
GEO Accession No: GSM520738
GEO Accession No: GSM608313
GEO Accession No: GSM608314

Images

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View pedigree 

Culture Protocols

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Passage Frozen 5
Split Ratio 1:7
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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