ID   GM29843
AC   CVCL_F1AD
SY   GM29843*B
DR   Coriell; GM29843
CC   Population: Caucasian; Irish/Italian.
CC   Karyotypic information: 46,XX,inv(9)(p11->q13) (Coriell=GM29843).
CC   Sequence variation: Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Gly48Cys (c.142C>A); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM29843).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C120046; Congenital fiber-type disproportion
DI   NCIt; C129870; Nemaline myopathy 3
DI   ORDO; Orphanet_2020; Congenital fiber-type disproportion myopathy
DI   ORDO; Orphanet_171436; Typical nemaline myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A2VD ! GM26112
SX   Female
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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