ID   AT4JTO(SV)
AC   CVCL_ZN19
DR   JCRB; KURB1811
DR   Wikidata; Q98125512
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; c.4612del165 (Ex33del); Zygosity=Heterozygous (from parent cell line).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) [Note=pSVori-].
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_M812 ! AT4JTO
SX   Female
AG   12Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 05-10-23; Version: 7
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