| Cell line name |
AT5RM |
|---|
| Synonyms |
Ataxia Telangiectasia 5 RoMa |
|---|
| Accession |
CVCL_XY52 |
|---|
| Resource Identification Initiative |
To cite this cell line use: AT5RM (RRID:CVCL_XY52) |
|---|
| Comments |
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. |
|---|
| Sequence variations |
- Mutation; HGNC; HGNC:795; ATM; Simple; p.Tyr705Thrfs*30 (c.2113delT); ClinVar=VCV000216850; Zygosity=Heterozygous (PubMed=8845835).
- Mutation; HGNC; HGNC:795; ATM; Simple; p.Ser1993Argfs*23 (c.5979_5983delTAAAG) (5979delTAAAG); ClinVar=VCV000233016; Zygosity=Heterozygous (PubMed=8845835).
|
|---|
| Disease |
Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100) |
|---|
| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
|---|
| Category |
Transformed cell line |
|---|
| Publications | PubMed=8845835; DOI=10.1093/hmg/5.4.433
Shlomit Gilad, Rami Khosravi, Dganit Shkedy, Tamar Uziel, Yael Ziv, Kinneret Savitsky, Galit Rotman, Sara Smith, Luciana Chessa, Timothy J. Jorgensen, Reli Harnik ...Show all 23 authors... , Moshe Frydman, Ozden Sanal, Sima Portnoi, Zipora Goldwicz, Nicolaas G.J. Jaspers, Richard A. Gatti, Gilbert Marcel Lenoir, Martin Francis Lavin, Kouichi Tatsumi, Rolf-Dieter Wegner, Yosef Shiloh, Anat Bar-Shira; Show fewer authors
Predominance of null mutations in ataxia-telangiectasia.
Hum. Mol. Genet. 5:433-439(1996) |
|---|
| Cross-references |
|---|
| Encyclopedic resources |
Wikidata; Q93326415
|
|---|
| Entry history |
|---|
| Entry creation | 19-Dec-2019 |
|---|
| Last entry update | 19-Dec-2024 |
|---|
| Version number | 10 |
|---|
