Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
2
|
|
Relation to Proband
|
brother
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
47,XY,+der(13)t(13;17)(q14;p13)mat[19]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
1.39 |
| Passage Frozen |
9 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 13: DERIVATIVE CHROMOSOME Aneuploid Segment (+)13pter>13q14 |
|
Chromosome 13: DERIVATIVE CHROMOSOME Trisomic Segment 13pter>13q14 |
|
Chromosome 17: DERIVATIVE CHROMOSOME Aneuploid Segment (+)17pter>17p13 |
|
Chromosome 17: DERIVATIVE CHROMOSOME Trisomic Segment 17pter>17p13 |
| Remarks |
Mental retardation; minor dysmorphia |
| 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 |
| |
| Nove J, Nichols WW, Weichselbaum RR, Little JB, Abnormalities of human chromosome 13 and in vitro radiosensitivity; a study of 19 fibroblast strains. Mutat Res84:157-67 1981 |
| PubMed ID: 7329430 |
| |
| Nove J, Weichselbaum RR, Nichols WW, Albert DM, Little JB, In vitro studies of fibroblasts from patients with retinoblastoma. Int Ophthalmol Clin20:211-22 1980 |
| PubMed ID: 6995388 |
| |
| Weichselbaum RR, Nove J, Little JB, X-ray sensitivity of fifty-three human diploid fibroblast cell strains from patients with characterized genetic disorders. Cancer Res40:920-5 1980 |
| PubMed ID: 7471105 |
| |
| Nove J, Little JB, Weichselbaum RR, Nichols WW, Hoffman E, Retinoblastoma, chromosome 13, and in vitro cellular radiosensitivity. Cytogenet Cell Genet24:176-84 1979 |
| PubMed ID: 477414 |
| |
| Schinzel A, Aronson MM, Greene AE, Coriell LL, Partial trisomy 13, 47XY,, resulting from a maternally inherited translocation, t(13;17). Repository identification No. GM-1555. Cytogenet Cell Genet23:147 1979 |
| PubMed ID: 761480 |
| |
| Schinzel A, Schmid W, Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proxim Humangenetik22:287-98 1974 |
| PubMed ID: 4139096 |
| Cumulative PDL at Freeze |
4.42 |
| Passage Frozen |
9 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
|
|