ID   CS10LO
AC   CVCL_ZN69
SY   Cockayne Syndrome 10 LOndon
DR   Wikidata; Q98125720
RX   PubMed=8834235;
RX   PubMed=9443879;
RX   PubMed=19179371;
RX   PubMed=22466610;
CC   Population: African.
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Ser429Lysfs*7 (c.1280dupT); ClinVar=VCV000190146; Zygosity=Homozygous (PubMed=9443879).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C135726; Cockayne syndrome type B
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
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RX   PubMed=8834235; DOI=10.1007/BF02267059;
RA   Stefanini M., Fawcett H., Botta E., Nardo T., Lehmann A.R.;
RT   "Genetic analysis of twenty-two patients with Cockayne syndrome.";
RL   Hum. Genet. 97:418-423(1996).
//
RX   PubMed=9443879; DOI=10.1086/301686; PMCID=PMC1376810;
RA   Mallery D.L., Tanganelli B., Colella S., Steingrimsdottir H.,
RA   van Gool A.J., Troelstra C., Stefanini M., Lehmann A.R.;
RT   "Molecular analysis of mutations in the CSB (ERCC6) gene in patients
RT   with Cockayne syndrome.";
RL   Am. J. Hum. Genet. 62:77-85(1998).
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RX   PubMed=19179371; DOI=10.1093/nar/gkp023; PMCID=PMC2651789;
RA   Limsirichaikul S., Niimi A., Fawcett H., Lehmann A.R., Yamashita S.,
RA   Ogi T.;
RT   "A rapid non-radioactive technique for measurement of repair synthesis
RT   in primary human fibroblasts by incorporation of ethynyl deoxyuridine
RT   (EdU).";
RL   Nucleic Acids Res. 37:e31.1-e31.10(2009).
//
RX   PubMed=22466610; DOI=10.1038/ng.2229;
RA   Nakazawa Y., Sasaki K., Mitsutake N., Matsuse M., Shimada M.,
RA   Nardo T., Takahashi Y., Ohyama K., Ito K., Mishima H., Nomura M.,
RA   Kinoshita A., Ono S., Takenaka K., Masuyama R., Kudo T., Slor H.,
RA   Utani A., Tateishi S., Yamashita S., Stefanini M., Lehmann A.R.,
RA   Yoshiura K.-i., Ogi T.;
RT   "Mutations in UVSSA cause UV-sensitive syndrome and impair RNA
RT   polymerase IIo processing in transcription-coupled nucleotide-excision
RT   repair.";
RL   Nat. Genet. 44:586-592(2012).
//