Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Connective Tissue, Muscle, and Bone
Cell Type Fibroblast
Transformant Untransformed
Race Caucasian
Ethnicity ASHKENAZI
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XX,15p+ 15p+ is C band positive
Species Homo sapiens
Common Name Human
Remarks Ashkenazi; stillborn; marked limb shortening; macrocephaly; cleft palate; depressed nasal bridge; micrognathia; polyhydramnios by ultrasound; radiograph shows shortened long bones, decreased mineralization, normal calvarium; Type 2
Passage Frozen 6
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis
 
Remark Ashkenazi; stillborn; marked limb shortening; macrocephaly; cleft palate; depressed nasal bridge; micrognathia; polyhydramnios by ultrasound; radiograph shows shortened long bones, decreased mineralization, normal calvarium; Type 2
No data is available
No data is available
Passage Frozen 6
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
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA