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SPECIES: human, Black
PATHOLOGY: galactosemia*230400 (OMIM record)
ECACC catalog code: 90102536
Description: Human Negroid skin symptomatic Galactosemia
Viruses: See Properties
Depositor: Obtained from ATCC, USA
No restrictions. Patent: None Specified By Depositor
Properties: Applications: Enzyme deficiency
Available in the following LABORATORY:
Part of the Business Division of the Health Protection Agency (ECACC, Salisbury, Wiltshire)
DMEM + 2mM Glutamine + 2% Non Essential Amino Acids (NEAA) + 2% Vitamins + 10% Fetal Bovine Serum (FBS). Split confluent cultures 1:2 to 1:3 i.e. seeding at 3-4x10,000 cells/cm2 using 0.25% trypsin; 5% CO2; 37C.
Karyotype: 2n = 46
Derived from skin tissue of a 6 year old Negro male with Galactosemia. Patient lacked red cell galactose-1-phosphate uridyl transferase activity. Older sibling (CHP 4 W.W.) (ECACC No. 90102537) lacked the same enzyme but remained asymptomatic. These cells are deficient in galactose-1-phosphate uridyl transferase and posses the A type electrophoretic variant of glucose-6-phosphate dehydrogenase. Cultures will retain characteristics for at least 30 passages
Research council deposit: No;
Price Code: C;
Validated by: isoenzymes (species confirmation)
Availability in cell line catalogues: ATCC: CCL 132
For information, get in touch with:
IRCCS Ospedale Policlinico San Martino
Largo Rosanna Benzi, 10 - I-16132 Genova - Italy
Dott.ssa Paola Visconti
If you want to cite CLDB and HyperCLDB, please use the following reference:
P. Romano, A. Manniello, O. Aresu, M. Armento, M. Cesaro, B. Parodi.
Cell Line Data Base: structure and recent improvements towards molecular authentication of human cell lines.
Nucleic Acids Research 2009 37(Database issue):D925-D932.