ID   GM10914
AC   CVCL_AK32
DR   CLO; CLO_0023321
DR   BioSample; SAMN00800336
DR   Coriell; GM10914
DR   Wikidata; Q54844732
CC   Sequence variation: Mutation; HGNC; HGNC:11740; TF; Simple; p.Asp77Asn (c.229G>A); ClinVar=VCV000012621; Zygosity=Homozygous (Coriell=GM10914).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125693; Atransferrinemia
DI   ORDO; Orphanet_1195; Congenital atransferrinemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   24Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
//