Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Connective Tissue, Muscle, and Bone
Quantity 50 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Race Caucasian
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY.arr[hg19](1-22)x2,(XY)x1
Species Homo sapiens
Common Name Human
Remarks Neg fam hx; skin absent on 50% of body at birth; esophageal reflux; blisters; scars; constipation; mult caries; partial pseudosyndactyly formation on both hands & feet; prob recessive dystrophic Hallopeau-Siemens type; see GM10268 Lymph.
Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Remark Neg fam hx; skin absent on 50% of body at birth; esophageal reflux; blisters; scars; constipation; mult caries; partial pseudosyndactyly formation on both hands & feet; prob recessive dystrophic Hallopeau-Siemens type; see GM10268 Lymph.
No data is available
No data is available
Passage Frozen 2
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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