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Cellosaurus TSCER2 (CVCL_WN51)

[Text version]
Cell line name TSCER2
Accession CVCL_WN51
Resource Identification Initiative To cite this cell line use: TSCER2 (RRID:CVCL_WN51)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Spleen; UBERON=UBERON_0002106.
Sequence variations
  • Mutation; HGNC; HGNC:11272; SPTA1; Simple; p.Ser1163Ala (c.3487T>G); ClinVar=VCV000258929; Zygosity=Homozygous (from parent cell line).
  • Mutation; HGNC; HGNC:11830; TK1; Simple; p.Ala78Argfs*27 (c.231insC); Zygosity=Heterozygous (PubMed=14673874).
  • Mutation; HGNC; HGNC:11830; TK1; Unexplicit; G>A at bp 23 of exon 5; Zygosity=Heterozygous (PubMed=14673874).
Disease Hereditary spherocytosis (NCIt: C97074)
Hereditary spherocytosis (ORDO: Orphanet_822)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_WN50 (TSCE5)
Sex of cell Male
Age at sampling 5Y
Category Transformed cell line
Publications

PubMed=14673874; DOI=10.1002/em.10201
Honma M., Izumi M., Sakuraba M., Tadokoro S., Sakamoto H., Wang W.-S., Yatagai F., Hayashi M.
Deletion, rearrangement, and gene conversion; genetic consequences of chromosomal double-strand breaks in human cells.
Environ. Mol. Mutagen. 42:288-298(2003)

Cross-references
Encyclopedic resources Wikidata; Q98133633
Entry history
Entry creation24-May-2019
Last entry update19-Dec-2024
Version number8