ID   GM28368
AC   CVCL_C0LU
DR   Coriell; GM28368
DR   Wikidata; Q112929606
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:1349; SAMD9L; Simple; p.Arg986His (c.2957G>A); ClinVar=VCV001190635; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28368).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C176909; Ataxia-pancytopenia syndrome
DI   ORDO; Orphanet_2585; Ataxia-pancytopenia syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   37Y
CA   Finite cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
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