ID   GM29372
AC   CVCL_F0Z7
SY   GM29372*B
DR   Coriell; GM29372
CC   Population: Jewish.
CC   Sequence variation: Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Asn238Lysfs*63 (c.713dupA) (c.713_714insA); ClinVar=VCV000004494; Zygosity=Homozygous (Coriell=GM29372).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126691; Rigid spine muscular dystrophy 1
DI   ORDO; Orphanet_97244; Rigid spine syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_WP10 ! GM27122
SX   Female
AG   47Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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