• Mutation; HGNC; 12404; TTPA; Simple; p.Arg221Trp (c.661C>T); ClinVar=VCV000065597; Zygosity=Homozygous (Coriell=GM01960).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

PubMed=6458814; DOI=10.1073/pnas.78.10.6451
Scudiero D.A., Meyer S.A., Clatterbuck B.E., Tarone R.E., Robbins J.H.
Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in fibroblasts from patients with Huntington disease, familial dysautonomia, and other primary neuronal degenerations.
Proc. Natl. Acad. Sci. U.S.A. 78:6451-6455(1981)

PubMed=7299037; DOI=10.1016/0165-022X(81)90016-6
Sorbi S., Blass J.P.
Spectrophotometric measurement of pyruvate dehydrogenase complex activity in cultured human fibroblasts.
J. Biochem. Biophys. Methods 5:169-176(1981)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)