ID   GM28311
AC   CVCL_C0LP
DR   Coriell; GM28311
DR   Wikidata; Q112929599
CC   Sequence variation: Mutation; HGNC; HGNC:2548; CUBN; Simple; p.Leu573Phe (c.1719A>T); ClinVar=VCV000811288; Zygosity=Heterozygous (Coriell=GM28311).
CC   Sequence variation: Mutation; HGNC; HGNC:2548; CUBN; Simple; p.Glu3077Lys (c.9229G>A); ClinVar=VCV002730303; Zygosity=Heterozygous (Coriell=GM28311).
CC   Sequence variation: Mutation; HGNC; HGNC:19440; SBDS; Simple; p.Asn14Ser (c.41A>G); ClinVar=VCV000427147; Zygosity=Heterozygous (Coriell=GM28311).
CC   Sequence variation: Mutation; HGNC; HGNC:19440; SBDS; Simple; c.258+2T>C (IVS2+2T>C); ClinVar=VCV000003196; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM28311).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61235; Shwachman-Diamond syndrome
DI   ORDO; Orphanet_811; Shwachman-Diamond syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   7Y
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 10-04-25; Version: 7
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