Original language | English |
---|---|
Pages (from-to) | 482 |
Number of pages | 1 |
Journal | The Lancet |
Volume | 300 |
Issue number | 7775 |
DOIs | |
State | Published - 2 Sep 1972 |
Externally published | Yes |
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In: The Lancet, Vol. 300, No. 7775, 02.09.1972, p. 482.
Research output: Contribution to journal › Letter › peer-review
TY - JOUR
T1 - DETECTION OF CYSTATHIONINE SYNTHASE IN LONG-TERM LYMPHOID-CELL LINES
AU - Fleisher, Lynn D.
AU - Beratis, Nicholas G.
AU - Hirschhorn, Kurt
AU - Gaull, Gerald E.
N1 - Funding Information: were Lymphoid-cell assayed. In lines one of derived these lines from the two enzymatic normal activitydonors was determined after 6 and 9 months of culture: the activity remained stable (3.10 nmoles and 1-73 nmoles per mg. soluble protein per hour, respectively). The second line, assayed after 5 months in culture, showed activity of 2-57 nmoles per mg. soluble protein per hour. The cells, examined at the time of assay, were diploid. Deficiency of cystathionine-synthase activity in patients with homocystinuria has been demonstrated in liver,!,. brain,6 skin fibroblasts,2 and phytohæmagglutinin-stimu- lated lymphocytes.3 We are now establishing long-term lymphoid-cell lines from patients with homocystinuria and obligate heterozygotes for the disease. Unlike skin fibro- blasts, the lymphoid-cell lines grow in free suspension, proliferate abundantly, and apparently can be maintained indefinitely. Thus they provide a new tool for the study of this enzyme and its genetic variants. This work was supported by U.S.P.H.S. Clinical Genetics Center Grant GM 19443 and U.S.P.H.S. Grant HD 02552. K. H. is a career scientist of the N.Y.C. Health Research Council (1-513). Division of Medical Genetics, Department of Pediatrics, Mount Sinai School of Medicine of the City University of New York, New York 10029, U.S.A.; and Department of Pediatric Research, New York State Institute for Basic Research in Mental Retardation, Staten Island, New York 10314, U.S.A.
PY - 1972/9/2
Y1 - 1972/9/2
UR - http://www.scopus.com/inward/record.url?scp=0015491867&partnerID=8YFLogxK
U2 - 10.1016/S0140-6736(72)91873-9
DO - 10.1016/S0140-6736(72)91873-9
M3 - Letter
C2 - 4115363
AN - SCOPUS:0015491867
SN - 0140-6736
VL - 300
SP - 482
JO - The Lancet
JF - The Lancet
IS - 7775
ER -