Coriell Institute
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Connective Tissue, Muscle, and Bone
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Caucasian
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
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 GM10269 Fibro.
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 GM10269 Fibro.
No data is available
No data is available
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium

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