ID   GM27891
AC   CVCL_C7L4
DR   Coriell; GM27891
DR   Wikidata; Q117704348
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:11164; SNRPN; Simple; p.Arg25Ter (c.73C>T); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27891).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75463; Prader-Willi syndrome
DI   ORDO; Orphanet_739; Prader-Willi syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10Y
CA   Transformed cell line
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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