ID   GM29523
AC   CVCL_F0ZK
SY   GM29523*B
DR   Coriell; GM29523
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:8967; PIGN; Simple; c.1434_c.1434+1delGGinsAA; ClinVar=VCV000280280; Zygosity=Homozygous; Note=Causes abnormal splicing (Coriell=GM29523).
CC   Sequence variation: Mutation; HGNC; HGNC:10485; RYR3; Simple; p.Arg1521Ser (c.4562G>C); Zygosity=Heterozygous (Coriell=GM29523).
CC   Sequence variation: Mutation; HGNC; HGNC:10485; RYR3; Simple; p.Glu4130Ala (c.12389A>C); Zygosity=Heterozygous (Coriell=GM29523).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C176896; Multiple congenital anomalies-hypotonia-seizures syndrome 1
DI   ORDO; Orphanet_280633; Multiple congenital anomalies-hypotonia-seizures syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A2VE ! GM26113
SX   Male
AG   8M
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
//