Description:
INCONTINENTIA PIGMENTI; IP
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities Heritable Diseases |
Class |
Syndromes with Increased Chromosome Breakage |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,XX
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
4 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Remarks |
Typical skin lesions appeared shortly after birth; 88% of fibroblasts are 46, XX, 10% show random chromosome loss, and 1 cell out of 50 showed t(12;14); this cell line is no more sensitive to gamma-irradiation than controls |
Paterson, Gamma-ray hypersensitivity and faulty DNA repair in cultured cells from humans exhibiting familial cancer proneness. Proc 6th Int Cong Rad Res, Tokyo(1979) p 484: 1979 |
PubMed ID: |
Passage Frozen |
4 |
Split Ratio |
1:3 |
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 |
- |
|
|