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NA00201 DNA from Fibroblast

Description:

TRISOMY 21
TRANSLOCATED CHROMOSOME

Affected:

Yes

Sex:

Female

Age:

13 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
Class Other Disorders of Known Biochemistry
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Family Member 1
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 47,XX,t(l;17)(1qter>1p34::17p13> 17pter;17qter>17p13::1p34>1pter),+21
Species Homo sapiens
Common Name Human
Remarks Clinical features of Down syndrome

Characterizations

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Passage Frozen 14
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis
 
Cytogenetics Chromosome 21: ANEUPLOID Aneuploid Segment (+)21pter>21qter
Chromosome 21: ANEUPLOID Trisomic Segment 21pter>21qter

Phenotypic Data

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Remarks Clinical features of Down syndrome

Publications

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Marentette JO, Anderson CC, Prutton KM, Jennings EQ, Rauniyar AK, Galligan JJ, Roede JR, Trisomy 21 impairs PGE2 production in dermal fibroblasts Prostaglandins & other lipid mediators153:106524 2020
PubMed ID: 33418267
 
Schwarz H, Arden K, Lotz M, CD137, a member of the tumor necrosis factor receptor family, is located on chromosome 1p36, in a cluster of related genes, and colocalizes with several malignancies Biochemical and biophysical research communications235:699-703 1997
PubMed ID: 9207223
 
Wijmenga C, Speck NA, Dracopoli NC, Hofker MH, Liu P, Collins FS, Identification of a new murine runt domain-containing gene, Cbfa3, and localization of the human homolog, CBFA3, to chromosome 1p35-pter. Genomics26:611-4 1995
PubMed ID: 7607690
 
Umbricht CB, Griffin CA, Hawkins AL, Grzeschik KH, O'Connell P, Leach R, Green ED, Kelly TJ, High-resolution genomic mapping of the three human replication protein A genes (RPA1, RPA2, and RPA3). Genomics20:249-57 1994
PubMed ID: 8020972
 
Chang-Yeh A, Jabs EW, Li X, Dracopoli NC, Huang RC, The IPP gene is assigned to human chromosome 1p32-1p22. Genomics15:239-41 1993
PubMed ID: 8432546
 
Sanford KK, Parshad R, Price FM, Tarone RE, Schapiro MB, X-ray-induced chromatid damage in cells from Down syndrome and Alzheimer disease patients in relation to DNA repair and cancer proneness. Cancer Genet Cytogenet70:25-30 1993
PubMed ID: 8221609
 
Lebo RV, Chance PF, Dyck PJ, Redila-Flores MT, Lynch ED, Golbus MS, Bird TD, King MC, Anderson LA, Hall J, et al, Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region [published erratum appears in Hum Genet 1993 Apr;91(3):301] Hum Genet88:1-12 1991
PubMed ID: 1683643
 
Lebo RV, Anderson LA, Lau YF, Flandermeyer R, Kan YW, Flow-sorting analysis of normal and abnormal human genomes. Cold Spring Harb Symp Quant Biol51 Pt 1:169-76 1986
PubMed ID: 3472713
 
Lebo RV, Golbus MS, Cheung MC, Detecting abnormal human chromosome constitutions by dual laser flow cytogenetics. Am J Med Genet25:519-29 1986
PubMed ID: 2431619
 
Skovby F, Krassikoff N, Francke U, Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids. Hum Genet65:291-4 1984
PubMed ID: 6583157
 
Sparkes, Regional mapping of the human PGM1 locus. Cytogenet Cell Genet32:319 (1982):291-4 1982
PubMed ID: 6583157
 
Johannsmann R, Hellkuhl B, Grzeschik KH, Regional mapping of human chromosome 3. Assignment of a glutathione peroxidase-1 gene to 3p13 leads to 3q12. Hum Genet56:361-3 1981
PubMed ID: 7239518
 
Lin MS, Oizumi J, Ng WG, Alfi OS, Donnell GN, Regional mapping of the gene for human UDPGal 4-epimerase on chromosome 1 in mouse-human hybrids. Cytogenet Cell Genet24:217-23 1979
PubMed ID: 509992
 
Maroun LE, Interferon effect on ribosomal ribonucleic acid related to chromosome 21 ploidy. Biochem J179:221-5 1979
PubMed ID: 475756
 
Maroun LE, Miller ET, Increased messenger RNA from protein synthesis inhibited human fibroblasts. J Cell Physiol92:375-9 1977
PubMed ID: 903378
 
Tan YH, Greene AE, Subregional localization of the gene(s) governing the human interferon induced antiviral state in man. J Gen Virol32:153-5 1976
PubMed ID: 182912
 
de la Chapelle A, Miller RC, Greene AE, Coriell LL, A (1;17) translocation, balanced, plus trisomy 21, 47 chromosomes. Repository identification No. GM-201. Cytogenet Cell Genet14:82-3 1975
PubMed ID: 1132251

External Links

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dbSNP dbSNP ID: 22380
NCBI Gene Gene ID:1637
NCBI GTR 190685 DOWN SYNDROME
OMIM 190685 DOWN SYNDROME
Omim Description DOWN SYNDROME CRITICAL REGION; DSCR, INCLUDED
  DOWN SYNDROMEDOWN SYNDROME CHROMOSOME REGION; DCR, INCLUDED
  TRISOMY 21

Images

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View karyotype 
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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