Description:
FRYNS SYNDROME; FRNS
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Other Disorders of Known Biochemistry |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
1 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Remarks |
Parents are 3rd cous; expired within a few hours of premature birth; coarse facies with upturned nose & broad mouth; hypoplasia of distal digits & nails with DIP flexion contractures; cardiomegaly; parents are GM10930 & 10931 Lymphoid |
Kershisnik MM, Craven CM, Jung AL, Carey JC, Knisely AS, Osteochondrodysplasia in Fryns syndrome. Am J Dis Child145:656-660 1991 |
PubMed ID: 1903587 |
Passage Frozen |
1 |
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 |
- |
|
|