ID   TTD5PV
AC   CVCL_RU75
SY   TrichoThioDystrophy 5 PaVia
DR   CLO; CLO_0009428
DR   CLDB; cl4555
DR   Wikidata; Q54973265
RX   PubMed=16977596;
CC   From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy.
CC   Population: Caucasian.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C146899; Trichothiodystrophy 4, nonphotosensitive
DI   ORDO; Orphanet_33364; Trichothiodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 7
//
RX   PubMed=16977596; DOI=10.1002/humu.20419;
RA   Botta, Elena
RA   Offman, Judith
RA   Nardo, Tiziana
RA   Ricotti, Roberta
RA   Zambruno, Giovanna
RA   Sansone, Daniela
RA   Balestri, Paolo
RA   Raams, Anja
RA   Kleijer, Wim J.
RA   Jaspers, Nicolaas G.J.
RA   Sarasin, Alain
RA   Lehmann, Alan R.
RA   Stefanini, Miria
RT   "Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive
RT   trichothiodystrophy patients: no obvious genotype-phenotype
RT   relationships.";
RL   Hum. Mutat. 28:92-96(2007).
//