Table 1.
XP-B | −/−: 31-yr-old female; | Cockayne symptoms: UV sensitivity; mutation in RNA splice site of XP-B gene | ||
* (GM02252A) | ‡(3′ → 5′ DNA helicase; component of transcription factor TFIIH) | |||
XP-D | −/−: 5-yr-old male; | Cockayne symptoms; neurological symptoms; UV sensitivity | ||
(GM03249) | (5′ → 3′ DNA helicase; component of transcription factor TFIIH) | |||
XP-V | −/−: 9-yr-old female; | photosensitivity; Cockayne symptoms: microcephaly; growth retardation; ataxia | ||
(GM10902 | (function unknown; involved in NER and postreplication DNA repair) | |||
CS-A | −/−: 13-yr-old male; | Cockayne syndrome; low UV recovery | ||
(GM01857A) | (repair of transcriptionally active DNA; interacts with TFIIH) |
Cell repository catalog number;
Putative function of the gene product.