GM00323
Fibroblast from Skin, Arm
Description:
XXXY AND XXXXY SYNDROME
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Arm
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Race
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White
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Ethnicity
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Sardinian
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Family Member
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1
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Relation to Proband
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brother
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Confirmation
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Karyotypic analysis and Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
5.36 |
| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Remarks |
Clinically unaffected; normal RBC G6PD level; Xg(a) antigen positive; brother of GM00326 (XXXXY); mother is GM00321. |
| Lehmann RJ, Jolly LA, Johnson BV, Lord MS, Kim HN, Saville JT, Fuller M, Byers S, Derrick-Roberts ALK, Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells Molecular genetics and metabolism reports29:100811 2021 |
| PubMed ID: 34712574 |
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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 |
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| Liu C, Arnold R, Henriques G, Djabali K, Inhibition of JAK-STAT Signaling with Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells Cells8:102008 2019 |
| PubMed ID: 31635416 |
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| Salo VT, Li S, Vihinen H, Hölttä-Vuori M, Szkalisity A, Horvath P, Belevich I, Peränen J, Thiele C, Somerharju P, Zhao H, Santinho A, Thiam AR, Jokitalo E, Ikonen E, Seipin Facilitates Triglyceride Flow to Lipid Droplet and Counteracts Droplet Ripening via Endoplasmic Reticulum Contact Developmental cell50:478-493.e9 2018 |
| PubMed ID: 31178403 |
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| Yokoyama H, Moreno-Andres D, Astrinidis SA, Hao Y, Weberruss M, Schellhaus AK, Lue H, Haramoto Y, Gruss OJ, Antonin W, Chromosome alignment maintenance requires the MAP RECQL4, mutated in the Rothmund-Thomson syndrome Life science alliance2:478-493.e9 2018 |
| PubMed ID: 30718377 |
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| Treff NR, Campos J, Tao X, Levy B, Ferry KM, Scott RT, Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder Fertility and sterility98:1236-40 2012 |
| PubMed ID: 22921075 |
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| Treff NR, Tao X, Ferry KM, Su J, Taylor D, Scott RT, Development and validation of an accurate quantitative real-time polymerase chain reaction-based assay for human blastocyst comprehensive chromosomal aneuploidy screening Fertility and sterility97:819-824.e2 2011 |
| PubMed ID: 22342859 |
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| 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 |
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| Wang G, Chuang L, Zhang X, Colton S, Dombkowski A, Reiners J, Diakiw A, Xu XS, The initiative role of XPC protein in cisplatin DNA damaging treatment-mediated cell cycle regulation. Nucleic Acids Res32(7):2231-40 2004 |
| PubMed ID: 15107491 |
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| Odaib AA, Shneider BL, Bennett MJ, Pober BR, Reyes-Mugica M, Friedman AL, Suchy FJ, Rinaldo P, A defect in the transport of long-chain fatty acids associated with acute liver failure. N Engl J Med339(24):1752-7 1998 |
| PubMed ID: 9845710 |
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| Hotamisligil GS, Breakefield XO, Human monoamine oxidase A gene determines levels of enzyme activity. Am J Hum Genet49:383-92 1991 |
| PubMed ID: 1678250 |
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| Heath-Monnig E, Wohltmann HJ, Mills-Dunlap B, Daughaday WH, Measurement of insulin-like growth factor I (IGF-I) responsiveness of fibroblasts of children with short stature: identification of a patient with IGF-I resistance. J Clin Endocrinol Metab64:501-7 1987 |
| PubMed ID: 3818890 |
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| Kinsella TJ, Dobson PP, Fornace AJ Jr, Barrett SF, Ganges MB, Robbins JH, Alzheimer's disease fibroblasts have normal repair of N-methyl-N'-nitro- N-nitrosoguanidine-induced DNA damage determined by the alkaline elution technique. Biochem Biophys Res Commun149:355-61 1987 |
| PubMed ID: 3426578 |
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| 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 |
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| Leone A, Pavlakis GN, Hamer DH, Menkes' disease: abnormal metallothionein gene regulation in response to copper. Cell40:301-9 1985 |
| PubMed ID: 3967294 |
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| Wrogemann, Searching for the gene product(s) responsible for Duchenne muscular dystrophy. Ital J Neurol SciSuppl 3:51 (1984):301-9 1984 |
| PubMed ID: 3967294 |
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| Kurz JB, Perkins JP, Cystic fibrosis fibroblasts respond normally to isoproterenol. Pediatr Res15:1328-33 1981 |
| PubMed ID: 6170925 |
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| Kurz JB, Perkins JP, Buchwald M, Killing of fibroblasts by dexamethasone or dibutyryl adenosine 3',5'- monophosphate is not a valid test for cystic fibrosis. Science206:1317-9 1979 |
| PubMed ID: 229552 |
| Passage Frozen |
3 |
| Split Ratio |
1:2 |
| 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 |
- |
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