GM04626

GM04626 Fibroblast from Skin, Buttock

Description:

ANEUPLOID CHROMOSOME NUMBER - TRISOMY

Affected:

No

Sex:

Female

Age:

21 FW (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Chromosome Abnormalities
dbGaP

Biopsy Source

Buttock

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Buttock

Race

White

Relation to Proband

proband

Confirmation

Karyotypic analysis after cell line submission to CCR

ISCN

47,XXX[20]

Species

Homo sapiens

Common Name

Human

Remarks

Abortus; clinically normal phenotype; initial chromosome analysis of 47,XXX on amniotic fluid and lymphoblast cell cultures; fibroblast culture verified to have same karyotype via in-house testing.

Characterizations

PDL at Freeze

5.8

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Chromosome Analysis

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.

Cytogenetics

Chromosome X: ANEUPLOID Aneuploid Segment (+)Xpter>Xqter

Phenotypic Data

Remarks

Abortus; clinically normal phenotype; initial chromosome analysis of 47,XXX on amniotic fluid and lymphoblast cell cultures; fibroblast culture verified to have same karyotype via in-house testing.

Publications

García-Pascual CM, Navarro-Sánchez L, Navarro R, Martínez L, Jiménez J, Rodrigo L, Simón C, Rubio C, Optimized NGS Approach for Detection of Aneuploidies and Mosaicism in PGT-A and Imbalances in PGT-SR Genes11: 2020

PubMed ID: 32610655

Hwang S, Williams JF, Kneissig M, Lioudyno M, Rivera I, Helguera P, Busciglio J, Storchova Z, King MC, Torres EM, Suppressing Aneuploidy-Associated Phenotypes Improves the Fitness of Trisomy 21 Cells Cell reports29:2473-2488.e5 2019

PubMed ID: 31747614

Treff NR, Zimmerman R, Bechor E, Hsu J, Rana B, Jensen J, Li J, Samoilenko A, Mowrey W, Van Alstine J, Leondires M, Miller K, Paganetti E, Lello L, Avery S, Hsu S, Melchior Tellier LCA, Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform European journal of medical genetics62:103647 2019

PubMed ID: 31026593

Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013

PubMed ID: 23665875

Treff NR, Su J, Tao X, Northrop LE, Scott RT, Single-cell whole-genome amplification technique impacts the accuracy of SNP microarray-based genotyping and copy number analyses Molecular human reproduction17:335-43 2010

PubMed ID: 21177337

Yim SH, Chung YJ, Jin EH, Shim SC, Kim JY, Kim YS, Hu HJ, Shin SH, Pae HO, Zouali M, Chung HT, The potential role of VPREB1 gene copy number variation in susceptibility to rheumatoid arthritis Molecular immunology48:1338-43 2010

PubMed ID: 21144590

Hostetter G, Kim SY, Savage S, Gooden GC, Barrett M, Zhang J, Alla L, Watanabe A, Einspahr J, Prasad A, Nickoloff BJ, Carpten J, Trent J, Alberts D, Bittner M, Random DNA fragmentation allows detection of single-copy, single-exon alterations of copy number by oligonucleotide array CGH in clinical FFPE samples Nucleic acids research38:e9 2009

PubMed ID: 19875416

Treff NR, Su J, Tao X, Levy B, Scott RT, Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays Fertility and sterility94:2017-21 2009

PubMed ID: 20188357

Isaksson M, Stenberg J, Dahl F, Thuresson AC, Bondeson ML, Nilsson M, MLGA--a rapid and cost-efficient assay for gene copy-number analysis Nucleic acids research35:e115 2007

PubMed ID: 17823203

Peiffer DA, Le JM, Steemers FJ, Chang W, Jenniges T, Garcia F, Haden K, Li J, Shaw CA, Belmont J, Cheung SW, Shen RM, Barker DL, Gunderson KL, High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping Genome research16:1136-48 2006

PubMed ID: 16899659

Warshawsky I, Chernova OB, Hübner CA, Stindl R, Henneke M, Gal A, Natowicz MR, Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease Clinical chemistry52:1267-75 2006

PubMed ID: 16644873

Garcia MJ, Pole JC, Chin SF, Teschendorff A, Naderi A, Ozdag H, Vias M, Kranjac T, Subkhankulova T, Paish C, Ellis I, Brenton JD, Edwards PA, Caldas C, A 1 Mb minimal amplicon at 8p11-12 in breast cancer identifies new candidate oncogenes Oncogene24:5235-45 2005

PubMed ID: 15897872

Wang Y, Moorhead M, Karlin-Neumann G, Falkowski M, Chen C, Siddiqui F, Davis RW, Willis TD, Faham M, Allele quantification using molecular inversion probes (MIP) Nucleic acids research33:e183 2005

PubMed ID: 16314297

Barrett MT, Scheffer A, Ben-Dor A, Sampas N, Lipson D, Kincaid R, Tsang P, Curry B, Baird K, Meltzer PS, Yakhini Z, Bruhn L, Laderman S, Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA. Proc Natl Acad Sci U S A101(51):17765-70 2004

PubMed ID: 15591353

Bignell GR, Huang J, Greshock J, Watt S, Butler A, West S, Grigorova M, Jones KW, Wei W, Stratton MR, Futreal PA, Weber B, Shapero MH, Wooster R, High-resolution analysis of DNA copy number using oligonucleotide microarrays. Genome Res14(2):287-95 2004

PubMed ID: 14762065

Ensminger AW, Chess A, Coordinated replication timing of monoallelically expressed genes along human autosomes. Hum Mol Genet13(6):651-8 2004

PubMed ID: 14734625

Ota A, Tagawa H, Karnan S, Tsuzuki S, Karpas A, Kira S, Yoshida Y, Seto M, Identification and characterization of a novel gene, C13orf25, as a target for 13q31-q32 amplification in malignant lymphoma. Cancer Res64(9):3087-95 2004

PubMed ID: 15126345

Zhao X, Li C, Paez JG, Chin K, Janne PA, Chen TH, Girard L, Minna J, Christiani D, Leo C, Gray JW, Sellers WR, Meyerson M, An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays. Cancer Res64(9):3060-71 2004

PubMed ID: 15126342

Lage JM, Leamon JH, Pejovic T, Hamann S, Lacey M, Dillon D, Segraves R, Vossbrinck B, Gonzalez A, Pinkel D, Albertson DG, Costa J, Lizardi PM, Whole genome analysis of genetic alterations in small DNA samples using hyperbranched strand displacement amplification and array-CGH. Genome Res13(2):294-307 2003

PubMed ID: 12566408

Chadwick BP, Valley CM, Willard HF., Histone variant macroH2A contains two distinct macrochromatin domains capable of directing macroH2A to the inactive X chromosome. Nucleic Acids Res.29(13):2699-705 2001

PubMed ID: 11433014

Chadwick BP, Willard HF., A novel chromatin protein, distantly related to histone H2A, is largely excluded from the inactive X chromosome. J Cell Biol.152(2):375-84 2001

PubMed ID: 11266453

Chadwick BP1, Willard HF., Histone H2A variants and the inactive X chromosome: identification of a second macroH2A variant. Hum Mol Genet.10(10):1101-13 2001

PubMed ID: 11331621

Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, Dairkee SH, Ljung BM, Gray JW, Albertson DG, High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet20:207-11 1998

PubMed ID: 9771718

Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D, Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science258:818-21 1992

PubMed ID: 1359641

Trask B, van den Engh G, Nussbaum R, Schwartz C, Gray J., Quantification of the DNA content of structurally abnormal X chromosomes and X chromosome aneuploidy using high resolution bivariate flow karyotyping. Cytometry11(1):184-95 1990

PubMed ID: 2106419

Zacksenhaus E, Sheinin R, Molecular cloning, primary structure and expression of the human X linked A1S9 gene cDNA which complements the ts A1S9 mouse L cell defect in DNA replication. EMBO J9:2923-9 1990

PubMed ID: 2390975