ID   TSCER2
AC   CVCL_WN51
DR   Wikidata; Q98133633
RX   PubMed=14673874;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11272; SPTA1; Simple; p.Ser1163Ala (c.3487T>G); ClinVar=VCV000258929; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 11830; TK1; Simple; p.Ala78Argfs*27 (c.231insC); Zygosity=Heterozygous (PubMed=14673874).
CC   Sequence variation: Mutation; HGNC; 11830; TK1; Unexplicit; G>A at bp 23 of exon 5; Zygosity=Heterozygous (PubMed=14673874).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Spleen; UBERON=UBERON_0002106.
DI   NCIt; C97074; Hereditary spherocytosis
DI   ORDO; Orphanet_822; Hereditary spherocytosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_WN50 ! TSCE5
SX   Male
AG   5Y
CA   Transformed cell line
DT   Created: 24-05-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=14673874; DOI=10.1002/em.10201;
RA   Honma M., Izumi M., Sakuraba M., Tadokoro S., Sakamoto H., Wang W.-S.,
RA   Yatagai F., Hayashi M.;
RT   "Deletion, rearrangement, and gene conversion; genetic consequences of
RT   chromosomal double-strand breaks in human cells.";
RL   Environ. Mol. Mutagen. 42:288-298(2003).
//