• Mutation; HGNC; 3435; ERCC3; Simple; p.Phe270Ter (c.807_808delTT); Zygosity=Heterozygous (from autologous cell line XP11BE LCL).
  
• Mutation; HGNC; 3435; ERCC3; Simple; p.Gln739fs*42 (c.2218-6C>A) (IVS14-6C>A); Zygosity=Heterozygous (from autologous cell line XP11BE LCL).
  

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Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.
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A xeroderma pigmentosum patient having a high residual activity of unscheduled DNA synthesis after UV is assigned to complementation group A.
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Repair of ultraviolet light damage in a variety of human fibroblast cell strains.
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Xeroderma pigmentosum D-HeLa hybrids with low and high ultraviolet sensitivity associated with normal and diminished DNA repair ability, respectively.
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PubMed=2175267; DOI=10.1016/0014-4827(90)90012-Y
Klein B., Pastink A., Odijk H., Westerveld A., van der Eb A.J.
Transformation and immortalization of diploid xeroderma pigmentosum fibroblasts.
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PubMed=9012405
Weeda G., Eveno E., Donker I., Vermeulen W., Chevallier-Lagente O., Taieb A., Stary A., Hoeijmakers J.H.J., Mezzina M., Sarasin A.
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
Am. J. Hum. Genet. 60:320-329(1997)

PubMed=9579555; DOI=10.1046/j.1523-1747.1998.00171.x
Sijbers A.M., van Voorst Vader P.C., Snoek J.W., Raams A., Jaspers N.G.J., Kleijer W.J.
Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease.
J. Invest. Dermatol. 110:832-836(1998)

PubMed=15572672; DOI=10.1128/mcb.24.24.10670-10680.2004
Thorel F., Constantinou A., Dunand-Sauthier I., Nouspikel T., Lalle P., Raams A., Jaspers N.G.J., Vermeulen W., Shivji M.K.K., Wood R.D., Clarkson S.G.
Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage.
Mol. Cell. Biol. 24:10670-10680(2004)