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NA23248 DNA from Fibroblast

Description:

PERSONAL GENOME PROJECT

Affected:

No

Sex:

Male

Age:

55 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Apparently Healthy Collection
PIGI Consented Sample
Quantity 10 µg
Quantitation Method Please see our FAQ
Biopsy Source Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Country of Origin USA
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY,t(8;14)(14qter->14q24.3::8p21->8qter;14pter->14q24.3::8p21->8pter)
Species Homo sapiens
Common Name Human
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).

Characterizations

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PDL at Freeze 5.68
Passage Frozen 6
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 

Phenotypic Data

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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).

Publications

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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: 2023
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
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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