NA00692
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
| 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
|
45,XY,der(2)(2pter>2q37::21q21>21qter)mat,-21
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
7 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| AMYLOID PRECURSOR PROTEIN |
Korenberg et al (Genomics 5:124-127,1989) reported that DNA from this cell culture contained a single copy of the amyloid precursor protein, a single copy for locus D21S46, and 2 copies for locus D21S39. The results of this quantitative Southern blot analysis suggest that the APP gene is located within the region 21q21.05-q21.2. |
| |
| Cytogenetics |
Chromosome 2: DELETION Aneuploid Segment (-)2q37>2qter |
|
Chromosome 2: DERIVATIVE CHROMOSOME Aneuploid Segment (-)2q37>2qter |
|
Chromosome 21: DELETION Aneuploid Segment (-)21pter>21q21 |
|
Chromosome 21: DERIVATIVE CHROMOSOME Aneuploid Segment (-)21pter>21q21 |
| Remarks |
Mentally retarded; DNA contains single copies of amyloid precursor protein locus (APP) and D21S46 locus and 2 copies of D21S39 locus |
| 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 |
| |
| 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 |
| |
| Barr FG, Holick J, Nycum L, Biegel JA, Emanuel BS, Localization of the t(2;13) breakpoint of alveolar rhabdomyosarcoma on a physical map of chromosome 2. Genomics13:1150-6 1992 |
| PubMed ID: 1505949 |
| |
| Korenberg JR, Pulst SM, Neve RL, West R, The Alzheimer amyloid precursor protein maps to human chromosome 21 bands q21.105-q21.05. Genomics5:124-7 1989 |
| PubMed ID: 2527801 |
| |
| Schmidt R, Mundel G, Rosenblatt M, Katznelson MB, Apparent G-monosomy, G-deletion, and incomplete Down's syndrome in a single family. J Med Genet9:457-61 1972 |
| PubMed ID: 4265014 |
|
|