• Mutation; HGNC; 3436; ERCC4; Simple; p.Arg490Gln (c.1469G>A) (R479Q); ClinVar=VCV001723249; Zygosity=Heterozygous (PubMed=9580660).
  
• Mutation; HGNC; 3436; ERCC4; Simple; p.Leu608Pro (c.1823T>C) (L599P); Zygosity=Heterozygous (PubMed=9580660).
  

CLPUB00387
Coriell L.L., Greene A.E., Mulivor R.A.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980.
(In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980)

PubMed=3834095; DOI=10.1269/jrr.26.443
Fujiwara Y., Ichihashi M., Uehara Y., Matsumoto A., Yamamoto Y., Kano Y., Tanakura Y.
Xeroderma pigmentosum groups C and F: additional assignments and a review of the subjects in Japan.
J. Radiat. Res. 26:443-449(1985)

PubMed=3922833; DOI=10.20772/cancersci1985.76.3_162
Fujiwara Y., Satoh Y.
Assignment of two Japanese xeroderma pigmentosum patients to complementation group D and their characteristics.
Jpn. J. Cancer Res. 76:162-166(1985)

PubMed=4031543; DOI=10.1111/1523-1747.ep12276776
Ichihashi M., Fujiwara Y., Uehara Y., Matsumoto A.
A mild form of xeroderma pigmentosum assigned to complementation group G and its repair heterogeneity.
J. Invest. Dermatol. 85:284-287(1985)

PubMed=3010096; DOI=10.1016/0167-8817(86)90052-0
Barbis D.P., Schultz R.A., Friedberg E.C.
Isolation and partial characterization of virus-transformed cell lines representing the A, G and variant complementation groups of xeroderma pigmentosum.
Mutat. Res. 165:175-184(1986)

PubMed=1814424
Nishigori C., Fujisawa H., Uyeno K., Kawaguchi T., Takebe H.
Xeroderma pigmentosum patients belonging to complementation group F and efficient liquid-holding recovery of ultraviolet damage.
Photodermatol. Photoimmunol. Photomed. 8:146-150(1991)

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)

PubMed=9025096; DOI=10.1093/mutage/12.1.41
Yagi T., Wood R.D., Takebe H.
A low content of ERCC1 and a 120 kDa protein is a frequent feature of group F xeroderma pigmentosum fibroblast cells.
Mutagenesis 12:41-44(1997)

PubMed=9580660; DOI=10.1093/hmg/7.6.969
Matsumura Y., Nishigori C., Yagi T., Imamura S., Takebe H.
Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms.
Hum. Mol. Genet. 7:969-974(1998)

PubMed=26184184; DOI=10.3390/ijms160715985
Bowden N.A., Beveridge N.J., Ashton K.A., Baines K.J., Scott R.J.
Understanding xeroderma pigmentosum complementation groups using gene expression profiling after UV-light exposure.
Int. J. Mol. Sci. 16:15985-15996(2015)