Coriell Institute
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Other Disorders of Known Biochemistry
Alternate IDs GM17271 [TUBEROUS SCLEROSIS 1; TSC1]
Quantity 0.050mg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Caucasian
Family Member 9
Relation to Proband in-law
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically unaffected; husband of GM07399B
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
Remark Clinically unaffected; husband of GM07399B
Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H, Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States Genetics in medicine : official journal of the American College of Medical Genetics9:88-100 2007
PubMed ID: 17304050
 
Smith M, Smalley S, Cantor R, Pandolfo M, Gomez MI, Baumann R, Flodman P, Yoshiyama K, Nakamura Y, Julier C, et al, Mapping of a gene determining tuberous sclerosis to human chromosome 11q14-11q23. Genomics6(1):105-14 1990
PubMed ID: 2303253
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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