ID   GM29375
AC   CVCL_F0Z8
SY   GM29375*B
DR   Coriell; GM29375
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Leu8168Phefs*13 (c.24502_24503dupAA) (p.Leu6277Phefs*13, c.18829_18830dupAA); ClinVar=VCV000855559; Zygosity=Heterozygous (Coriell=GM29375).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C118784; Nemaline myopathy 2
DI   ORDO; Orphanet_171436; Typical nemaline myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_HK64 ! GM25497
SX   Male
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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