Evidence of perturbations of cell cycle and DNA repair pathways as a consequence of human and murine NF1-haploinsufficiency

Table 1 NF1 pedigrees used in the study.

Sample	Sex	Age	NF1-status	Set	Family ID	Sample ID	Mutation
1-A	F	47	Affected	Coriell-18	2176	GM09534	c.3739_3742del
3-A	F	55	Affected	Coriell-18	2176	GM09616	c.3739_3742del
5-A	M	26	Affected	Coriell-18	2176	GM09619	c.3739_3742del
8-A	F	52	Affected	Coriell-18	2176	GM09627	c.3739_3742del
9-A	M	41	Affected	Coriell-18	2176	GM09628	c.3739_3742del
13-A	F	16	Affected	Coriell-18	2176	GM09633	c.3739_3742del
14-A	M	15	Affected	Coriell-18	2176	GM09634	c.3739_3742del
23-A	M	N.A.	Affected	Coriell-18	2176	GM09692	c.3739_3742del
24-A	M	51	Affected	Coriell-18	2176	GM09693	c.3739_3742del
4-U	F	28	Unaffected	Coriell-18	2176	GM09617	N.D.
6-U	M	67	Unaffected	Coriell-18	2176	GM09625	N.D.
10-U	M	32	Unaffected	Coriell-18	2176	GM09630	N.D.
12-U	F	33	Unaffected	Coriell-18	2176	GM09632	N.D.
15-U	M	35	Unaffected	Coriell-18	2176	GM09635	N.D.
16-U	F	29	Unaffected	Coriell-18	2176	GM09638	N.D.
19-U	M	38	Unaffected	Coriell-18	2176	GM09651	N.D.
20-U	F	39	Unaffected	Coriell-18	2176	GM09652	N.D.
21-U	M	N.A.	Unaffected	Coriell-18	2176	GM09688	N.D.
E1-A	M	37	Affected	ECACC-6	P0117	89082417	c.1261-2_1261-10del
E6-A	M	33	Affected	ECACC-6	P0117	89082422	c.1261-2_1261-10del
E10-A	F	40	Affected	ECACC-6	P0117	89082426	c.1261-2_1261-10del
E2-U	F	34	Unaffected	ECACC-6	P0117	89082418	N.D.
E7-U	M	41	Unaffected	ECACC-6	P0117	89082423	N.D.
E11-U	M	31	Unaffected	ECACC-6	P0117	89082427	N.D.

EBV-transformed lymphoblastoid cell lines (LCL) from two kindreds, Coriell-18 and ECACC-6, were obtained from Coriell and ECACC cell repositories, respectively. NF1-affected members of Coriell-18 set have a 4 bp deletion (5'-TTTG-3') in exon 22 of NF1, which is predicted to result in a premature stop codon. NF1-affected members of ECACC-6 set have a 9 bp deletion (5'-TTTTCTCTA-3') in intron 9 of NF1, which is predicted to disrupt the acceptor splice site of exon 10a, leading to exon skipping during mRNA splicing. Both mutations are predicted to be pathogenic. Mutations are described with nucleotide 1 being the A of the ATG translation initiation codon in the sequence NM_000267. Coriell and ECACC Family and Sample IDs for the cell lines are indicated in respective columns. Information for NF1-affected individuals is distinguished in boldface. N.A. - data not available; N.D. - not detected.

ISSN: 1471-2164