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
Whole-Genome Sequence |
| 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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Chinese
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Family Member
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3
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Family History
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N
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Relation to Proband
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mother
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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 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Participant (hu38168C) in the Personal Genome Project: http://www.personalgenomes.org;
osteopenia; heterozygous AP3B1 gene variant c.280-6dupT (Chr 5, genomic start 77524069, transcript NM_003664.4); heterozygous PRKAR1A gene variant c.349-5dupT (Chr 17, genomic start 66519861, transcript NM_002734.4); heterozygous STAT3 gene variant c.1601-8dupT (Chr 17, genomic start 40475651, transcript NM_139276.2); medication: Fosamax; mother of GM24631 (lymph) / GM26107 (stem cell); father is GM24694 (lymph); whole genome sequence data is available on the PGP website. |
| Longo GMC, Sayols S, Kotini AG, Heinen S, Möckel MM, Beli P, Roukos V, Linking CRISPR-Cas9 double-strand break profiles to gene editing precision with BreakTag Nature biotechnology: 2023 |
| PubMed ID: 38740992 |
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| 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 |
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| Steiert TA, Fuß J, Juzenas S, Wittig M, Hoeppner MP, Vollstedt M, Varkalaite G, ElAbd H, Brockmann C, Görg S, Gassner C, Forster M, Franke A, High-throughput method for the hybridisation-based targeted enrichment of long genomic fragments for PacBio third-generation sequencing NAR genomics and bioinformatics4:lqac051 2022 |
| PubMed ID: 35855323 |
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| Foox J, Nordlund J, Lalancette C, Gong T, Lacey M, Lent S, Langhorst BW, Ponnaluri VKC, Williams L, Padmanabhan KR, Cavalcante R, Lundmark A, Butler D, Mozsary C, Gurvitch J, Greally JM, Suzuki M, Menor M, Nasu M, Alonso A, Sheridan C, Scherer A, Bruinsma S, Golda G, Muszynska A, Labaj PP, Campbell MA, Wos F, Raine A, Liljedahl U, Axelsson T, Wang C, Chen Z, Yang Z, Li J, Yang X, Wang H, Melnick A, Guo S, Blume A, Franke V, Ibanez de Caceres I, Rodriguez-Antolin C, Rosas R, Davis JW, Ishii J, Megherbi DB, Xiao W, Liao W, Xu J, Hong H, Ning B, Tong W, Akalin A, Wang Y, Deng Y, Mason CE, The SEQC2 epigenomics quality control (EpiQC) study Genome biology22:332 2021 |
| PubMed ID: 34872606 |
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| Fujiki R, Ikeda M, Ohara O, Short DNA Probes Developed for Sample Tracking and Quality Assurance in Gene Panel Testing The Journal of molecular diagnostics : JMD22:332 2019 |
| PubMed ID: 31445212 |
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| Lazzarotto CR, Malinin NL, Li Y, Zhang R, Yang Y, Lee G, Cowley E, He Y, Lan X, Jividen K, Katta V, Kolmakova NG, Petersen CT, Qi Q, Strelcov E, Maragh S, Krenciute G, Ma J, Cheng Y, Tsai SQ, CHANGE-seq reveals genetic and epigenetic effects on CRISPR-Cas9 genome-wide activity Nature biotechnology22:332 2019 |
| PubMed ID: 32541958 |
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| 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 |
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| Church GM, The personal genome project. Mol Syst Biol.1, 2005.0030:42 2005 |
| PubMed ID: 16729065 |
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