Description:
CHROMOSOME DELETION
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities dbGaP |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,del(16)(p11.2p12)[24].arr 16p12.1p11.2(27,203,030-32,180,964)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
5.28 |
Passage Frozen |
9 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Cytogenetics |
Chromosome 16: DELETION Aneuploid Segment (-)16p11.2>16p11.1 |
Remarks |
Low set ears, hypertelorism with wide Mongolian slant, beaked nose, Pierre Robin anomalies, and hypoplastic nipples |
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 |
|
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 |
Passage Frozen |
9 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
3% |
Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Substrate |
Gelatin |
Supplement |
- |
|
|