ID   GM29378
AC   CVCL_F0Z9
SY   GM29378*C
DR   Coriell; GM29378
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=GM29378).
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)
HI   CVCL_C7L4 ! GM27891
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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