NA10064
DNA from Fibroblast
Description:
HOLOPROSENCEPHALY 3; HPE3
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
|
46,XX,der(7)(7pter>7q34:: 13q12.3>13qter)pat
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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 13: DERIVATIVE CHROMOSOME Aneuploid Segment (+)13q12>13qter |
|
Chromosome 13: DERIVATIVE CHROMOSOME Trisomic Segment 13q12>13qter |
|
Chromosome 7: DERIVATIVE CHROMOSOME Aneuploid Segment (-)7q34>7qter |
| Remarks |
Holoprosencephaly; parents are GM10067 {46,XY,t(7;13)} & GM10068 (46,XX) Lymphoid; passage 3 at IMR |
| 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 |
| |
| Vance GH, Nickerson C, Sarnat L, Zhang A, Henegariu O, Morichon-Delvallez N, Butler MG, Palmer CG, Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q. Am J Med Genet76:51-7 1998 |
| PubMed ID: 9508065 |
| |
| Mackay M, Fantes J, Scherer S, Boyle S, West K, Tsui LC, Belloni E, Lutz E, Van Heyningen V, Harmar AJ, Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype. Genomics37:345-53 1996 |
| PubMed ID: 8938447 |
| |
| Gurrieri F, Trask BJ, van den Engh G, Krauss CM, Schinzel A, Pettenati MJ, Schindler D, Dietz-Band J, Vergnaud G, Scherer SW, et al, Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nat Genet3:247-51 1993 |
| PubMed ID: 8485580 |
| View |
FISH Texas Red detects D13S1825, FITC detects G31340, DAPI counterstain |
|
FISH Texas Red detects D13S1825, FITC detects G31340, DAPI counterstain |
|
karyotype Texas Red detects D13S1825, FITC detects G31340, DAPI counterstain |
|
karyotype Texas Red detects D13S1825, FITC detects G31340, DAPI counterstain |
|
karyotype Texas Red detects D13S1825, FITC detects G31340, DAPI counterstain |
|
|