Description:
TRANSLOCATED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities DGAP |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XY,t(4;16)(4pter>4q35::16q22.1> 16qter;16pter>16q22.1::4q35>4qter)
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
2 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Cytogenetics |
Chromosome 16: TRANSLOCATION Breakpoint 16q22 t(4;16)16q22 |
|
Chromosome 4: TRANSLOCATION Breakpoint 4q35 t(4;16)4q35 |
Remarks |
Hydrocephalus, hypospadias, and minor dysmorphic features |
Callen DF, Baker E, Eyre HJ, Lane SA, An expanded mouse-human hybrid cell panel for mapping human chromosome 16. Ann Genet33:190-5 1990 |
PubMed ID: 2095701 |
|
Callen DF, Baker EG, Lane SA, Re-evaluation of GM2346 from a del(16)(q22) to t(4;16)(q35;q22.1). Clin Genet38:466-468 1990 |
PubMed ID: 2289320 |
|
Taysi K, Fishman M, Sekhon GS, A terminal long arm deletion of chromosome 16 in a dysmorphic infant: 46,XY,del(16) (q22). Birth Defects Orig Artic Ser14:343-7 1978 |
PubMed ID: 728588 |
Passage Frozen |
2 |
Split Ratio |
1:4 |
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 |
- |
|
|