ID   GM20480
AC   CVCL_BT41
DR   Coriell; GM20480
DR   Wikidata; Q54851042
CC   Population: African American.
CC   Sequence variation: Gene fusion; HGNC; HGNC:4827; HBB + HGNC; HGNC:4829; HBD; Name(s)=HBD-HBB, HBD50/HBB86, Hb Lepore-Baltimore; Note=ClinVar VCV000015060 (Coriell=GM20480).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C141366; Hemoglobin Lepore syndrome
DI   ORDO; Orphanet_330032; Hemoglobin Lepore-beta-thalassemia syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   35Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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