NA23249
DNA from Fibroblast
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 |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY.arr[hg19](1-22)x2,(XY)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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| PDL at Freeze |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Participant #4 (huE80E3D) in the Personal Genome Project: http://www.personalgenomes.org
Matching lymphoblast culture from this same subject is GM21677
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| Seemann S, Ernst M, Cimmaruta C, Struckmann S, Cozma C, Koczan D, Knospe AM, Haake LR, Citro V, Bräuer AU, Andreotti G, Cubellis MV, Fuellen G, Hermann A, Giese AK, Rolfs A, Lukas J, Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease The Biochemical journal477:359-380 2019 |
| PubMed ID: 31899485 |
| |
| 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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