ID   XP70TMA LCL
AC   CVCL_AK75
SY   Xeroderma Pigmentosum Turkey MAlatya 70 LCL; GM15698
DR   CLO; CLO_0027666
DR   Coriell; GM15698
DR   Wikidata; Q54848134
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:9181; POLH; Simple; p.Gln152Ter (c.454C>T); Zygosity=Homozygous (from autologous cell line XP70TMA).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C141367; Xeroderma pigmentosum variant type
DI   ORDO; Orphanet_90342; Xeroderma pigmentosum variant
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_AK74 ! XP70TMA
SX   Female
AG   17Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
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