Description:
PERSONAL GENOME PROJECT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection
PIGI Consented Sample |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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Czechoslovakian/Polish
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Family History
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N
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Relation to Proband
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proband
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ISCN
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46,XX.arr 17p12(14094686-15484859)x1
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Participant (hu3C0611) in the Personal Genome Project: http://www.personalgenomes.org
Subject’s age range is 60-69 years; diagnosed with hereditary neuropathy with liability to pressure palsies (HNPP);blood testing confirmed PMP22 gene deletion; symptom onset at 10-19 years of age; other diagnoses include: thyroid nodule, hypothyroidism, Hashimoto’s thyroiditis, iron deficiency anemia, migraine without aura. |
| Bellair M, Amaral E, Ouren M, Roark C, Kim J, O'Connor A, Soriano A, Schindler ML, Wapner RJ, Stone JL, Tavella N, Merriam A, Perley L, Breman AM, Beaudet AL, Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study Prenatal diagnosis44:304-316 2024 |
| PubMed ID: 38411249 |
| |
| Smullen M, Olson MN, Reichert JM, Dawes P, Murray LF, Baer CE, Wang Q, Readhead B, Church GM, Lim ET, Chan Y, Reliable multiplex generation of pooled induced pluripotent stem cells Cell reports methods3:100570 2022 |
| PubMed ID: 37751688 |
| |
| Mao Q, Ciotlos S, Zhang RY, Ball MP, Chin R, Carnevali P, Barua N, Nguyen S, Agarwal MR, Clegg T, Connelly A, Vandewege W, Zaranek AW, Estep PW, Church GM, Drmanac R, Peters BA., The whole genome sequences and experimentally phased haplotypes of over 100 personal genomes. Gigascience.5(1):42 2016 |
| PubMed ID: 27724973 |
| |
| Church GM, The personal genome project. Mol Syst Biol.1, 2005.0030:42 2005 |
| PubMed ID: 16729065 |
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