Table 1.

Mutations detected in EBV-transformed blood lymphocyte cell lines from the NIGMS Human Genetic Cell Repository (6).1

Genes
CFTR (16)MTHFRHFEF2F5HBA1; HBA2HBBFMR1HD
OMIM no. (9)*602421*607093*235200*176930*227400*141800; *141850*141900*309550*143100
Mutation(s) tested(See text)677C>TH63D; C282Y; S65C20210>ALeiden R506Qα-thalassemia deletionsHbS; HbCCGG repeat region (no. of repeats)CAG repeat region (no. of repeats)
Cell line
GM16028None; 7T/7T677C>T23S65C20210G>A2R506Q2Type 2 heterozygote (−3.7α/αα)NoneFemale (NR)424/17
GM074413120+ 1G>A;23 621 + 1G>T;3 7T/9T3677C>TNoneNoneNoneType 2 homozygote (−3.7α/−3.7α)NoneFemale (NR)22/17
GM16266None; 7T/7TNoneNoneNoneNoneNoneHbS/HbC23Male (44, near “gray zone”)20/19
GM13591ΔF50823 in cis with 9T; R117H23 in cis with 5T; M470V5677C>TH63D2 homozygousNoneNoneNoneNoneFemale (NR)20/18
GM16000None; 7T/7T677C>TH63D220210G>A,23, homozygousNoneNoneNoneFemale (NR)18/16
GM14641None; 7T/7TNoneC282Y;2 H63D2NoneR506Q23NoneNoneFemale (NR)24/16
GM034696R170H;5 7T/7TNoneNoneNoneNoneUnidentified variant5NoneMale (30)18/17
GM001306M470V5 homozygous; novel variant 4375–36delT;5 7T/7TNoneNoneNoneNoneNoneNoneMale (30)17/17
GM00536None; 7T/7TNoneNoneNoneNoneNoneNoneMale (20)20/20
NS01862None; 7T/7TNoneH63DNoneNoneNoneNoneFemale (NR)16/15
GM07752None; 7T/7TNoneC282YNoneNoneNoneNoneMale (20)20/17
GM06160None; 7T/7T677C>TC282YNoneNoneUnidentified variantNoneMale (30)18/16
GM09820None; 7T/7TNoneNoneNoneNoneNoneNoneMale (36)18/17
  • 1 Mutation analysis for each disease is described in the text. Mutations were heterozygous unless otherwise indicated. All cell lines were tested and found negative/normal for Muenke syndrome (FGFR3 OMIM *134934; 749C>G) and nonsyndromic hereditary hearing loss (connexin 26; GJB2; OMIM *121011; 35delG).

  • 2 Mutation previously reported by NIGMS.

  • 3 Mutation clinically validated by testing at a minimum of 5 laboratories, using at least 2 molecular methods.

  • 4 NR, not reported.

  • 5 Mutation/variant detected during clinical testing subsequent to initial characterization.

  • 6 Cell line used as negative control for clinical validation of cell lines with all diseases.