Description:
TRISOMY 21
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Other Disorders of Known Biochemistry |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
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
|
|
| 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 |
| Remarks |
Clinical features of Down syndrome |
| 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 |
| Passage Frozen |
14 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|