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
|
half-brother
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XY,der(6)t(1;6)(q41;p25)mat.arr 1q41q44(213286053-243703033)x3,6p25.3(94648-592953)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
2 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Cytogenetics |
Chromosome 1: DERIVATIVE CHROMOSOME Aneuploid Segment (+)1q32>1qter |
|
Chromosome 1: DERIVATIVE CHROMOSOME Trisomic Segment 1q32>1qter |
|
Chromosome 6: DERIVATIVE CHROMOSOME Aneuploid Segment (-)6pter>6p25 |
Remarks |
Growth and mental retardation; mildly dysmorphic; partial trisomy of the distal long arm of chromosome 1 |
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 |
|
Taysi K, Sekhon GS, Partial trisomy of chromosome no. 1 in two adult brothers due to maternal translocation (1q--;6p+). Hum Genet44:277-85 1978 |
PubMed ID: 730168 |
Passage Frozen |
2 |
Split Ratio |
1:5 |
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 |
- |
|
|