NA23248
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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Country of Origin
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USA
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Family Member
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1
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Relation to Proband
|
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,t(8;14)(14qter->14q24.3::8p21->8qter;14pter->14q24.3::8p21->8pter)
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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 |
5.68 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Participant #1 (hu43860C) in the Personal Genome Project: http://www.personalgenomes.org
Same subject as GM20431 (lymphoblast); GM23248 is mosaic for t(8;14)(p21.3;q24.3) which is no longer present in the stem cell (GM23338). |
| Ulicevic J, Shao Z, Jasnovidova O, Bressin A, Gajos M, Ng AH, Annaldasula S, Meierhofer D, Church GM, Busskamp V, Mayer A, Uncovering the dynamics and consequences of RNA isoform changes during neuronal differentiation Molecular systems biology: 2024 |
| PubMed ID: 38755290 |
| |
| Shen WB, Logue J, Yang P, Baracco L, Elahi M, Reece EA, Wang B, Li L, Blanchard TG, Han Z, Frieman MB, Rissman RA, Yang P, SARS-CoV-2 invades cognitive centers of the brain and induces Alzheimer's-like neuropathology bioRxiv : the preprint server for biology: 2022 |
| PubMed ID: 35132414 |
| |
| Ng AHM, Khoshakhlagh P, Rojo Arias JE, Pasquini G, Wang K, Swiersy A, Shipman SL, Appleton E, Kiaee K, Kohman RE, Vernet A, Dysart M, Leeper K, Saylor W, Huang JY, Graveline A, Taipale J, Hill DE, Vidal M, Melero-Martin JM, Busskamp V, Church GM, A comprehensive library of human transcription factors for cell fate engineering Nature biotechnology: 2019 |
| PubMed ID: 33257861 |
| |
| Nguyen HQ, Chattoraj S, Castillo D, Nguyen SC, Nir G, Lioutas A, Hershberg EA, Martins NMC, Reginato PL, Hannan M, Beliveau BJ, Church GM, Daugharthy ER, Marti-Renom MA, Wu CT, 3D mapping and accelerated super-resolution imaging of the human genome using in situ sequencing Nature methods17:822-832 2019 |
| PubMed ID: 32719531 |
| |
| Sauter EJ, Kutsche LK, Klapper SD, Busskamp V, Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental Disorders Methods in molecular biology (Clifton, NJ)1942:101-121 2019 |
| PubMed ID: 30900179 |
| |
| Shakhmantsir I, Dooley SJ, Kishore S, Chen D, Pierce E, Bennett J, Sehgal A, RNA Splicing Factor Mutations That Cause Retinitis Pigmentosa Result in Circadian Dysregulation Journal of biological rhythms1942:748730419887876 2019 |
| PubMed ID: 31726916 |
| |
| Song B, Cha Y, Ko S, Jeon J, Lee N, Seo H, Park KJ, Lee IH, Lopes C, Feitosa M, Luna MJ, Jung JH, Kim J, Hwang D, Cohen B, Teicher M, Leblanc P, Carter B, Kordower JH, Bolshakov VY, Kong SW, Schweitzer JS, Kim KS, Human Autologous iPSC-Derived Dopaminergic Progenitors Restore Motor Function in Parkinson's Disease Models The Journal of clinical investigation1942:748730419887876 2019 |
| PubMed ID: 31714896 |
| |
| Fleischer JG, Schulte R, Tsai HH, Tyagi S, Ibarra A, Shokhirev MN, Huang L, Hetzer MW, Navlakha S, Predicting age from the transcriptome of human dermal fibroblasts Genome Biology19:748730419887876 2018 |
| PubMed ID: 30567591 |
| |
| Drouin-Ouellet J, Pircs K, Barker RA, Jakobsson J, Parmar M, Direct Neuronal Reprogramming for Disease Modeling Studies Using Patient-Derived Neurons: What Have We Learned? Frontiers in neuroscience11:530 2017 |
| PubMed ID: 29033781 |
| |
| 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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