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Cellosaurus TTD5PV (CVCL_RU75)

[Text version]
Cell line name TTD5PV
Synonyms TrichoThioDystrophy 5 PaVia
Accession CVCL_RU75
Resource Identification Initiative To cite this cell line use: TTD5PV (RRID:CVCL_RU75)
Comments From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Disease Trichothiodystrophy 4, nonphotosensitive (NCIt: C146899)
Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3Y
Category Finite cell line
Publications

PubMed=16977596; DOI=10.1002/humu.20419
Elena Botta, Judith Offman, Tiziana Nardo, Roberta Ricotti, Giovanna Zambruno, Daniela Sansone, Paolo Balestri, Anja Raams, Wim J. Kleijer, Nicolaas G.J. Jaspers, Alain Sarasin ...Show all 13 authors... , Alan R. Lehmann, Miria Stefanini; Show fewer authors
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.
Hum. Mutat. 28:92-96(2007)

Cross-references
Cell line databases/resources CLO; CLO_0009428
CLDB; cl4555
Encyclopedic resources Wikidata; Q54973265
Entry history
Entry creation05-Mar-2018
Last entry update29-Jun-2023
Version number7