. Author manuscript; available in PMC: 2010 Aug 1.

Published in final edited form as: Mol Genet Metab. 2009 Apr 16;97(4):260–266. doi: 10.1016/j.ymgme.2009.04.005

Table 3.

Genetic and biochemical background of the cblC patient cell lines used in this study.

Cell line	Mutation 1	Mutation 2	Age of Onset	Metabolites in conditioned culture medium^b		Decyanation of [⁵⁷Co]-CNCbl and cofactor biosynthesis (%)^b

				Hcy (nmol/mg protein)	MMA (nmol/mg protein)	HOCbl	CNCbl	AdoCbl	MeCbl
Normal	^a	^a	^a	11.2 ± 11.8	0.76 ± 0.07	19.5 ± 3.7	28.9 ± 2.6	25.3 ± 4.8	26.4 ± 1.1
WG1801	c.217C>T	c.217C>T	<2 months	52.8 ± 25.5	6.67 ± 0.09	ND^c	100	ND	ND
WG2176	c.1-234A>G	c.609G>A	Birth	92.3 ± 23.2	3.57 ± 0.03	ND	100	ND	ND
WG3354	c.435_436dclAT	c.435_436dclAT	<2 months	48.1 ± 8.1	2.46 ± 0.27	27.9 ± 5.9	72 ± 5.9	ND	ND

Values represent mean ± standard deviation (n=3). Total Hey and MMA were determined in the conditioned culture medium of cells grown for 7 days. Difference in Hey and MMA levels between the normal and the cblC mutant cell lines were statistically significant as determined by Student’s t-test at the 95% level of confidence (p<0.05)

Values represent mean ± standard deviation (n=3).

ND: Not detectable.