NA01399
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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Black/African American
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Family Member
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3
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Relation to Proband
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maternal first cousin
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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47,XY,+der(21)t(10;21)(q26;q21)mat.arr 10q26.3(134129978-135356682)x3,21q11.2q21.3(13488060-26881613)x3
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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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| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 10: DERIVATIVE CHROMOSOME Aneuploid Segment (+)10q26>10qter |
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Chromosome 10: DERIVATIVE CHROMOSOME Trisomic Segment 10q26>10qter |
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Chromosome 21: DERIVATIVE CHROMOSOME Aneuploid Segment (+)21pter>21q21 |
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Chromosome 21: DERIVATIVE CHROMOSOME Trisomic Segment 21pter>21q21 |
| Remarks |
Mental retardation and ear anomalies; 1st cousin once removed to proband |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
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| 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 |
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| Querfurth HW, Wijsman EM, St George-Hyslop PH, Selkoe DJ, Beta APP mRNA transcription is increased in cultured fibroblasts from the familial Alzheimer's disease-1 family. Brain Res Mol Brain Res28(2):319-37 1995 |
| PubMed ID: 7723630 |
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| Williams JD, Summitt RL, Martens PR, Kimbrell RA, Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21. Am J Hum Genet27:478-85 1975 |
| PubMed ID: 125542 |
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