ID   AB320LGMD2B29Q
AC   CVCL_VG61
DR   Wikidata; Q54607689
WW   https://www.jain-foundation.org/research/access-resources/research-tools/cell-lines/
CC   Sequence variation: Mutation; HGNC; HGNC:3097; DYSF; Simple; c.342-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (Jain Foundation).
CC   Sequence variation: Mutation; HGNC; HGNC:3097; DYSF; Simple; p.Phe1172_Ser1173insTer (c.3516_3517delTT) (p.Ser1173Terfs) (p.Phe1190_Ser1191insTer, c.3570_3571del); ClinVar=VCV000217226; Zygosity=Heterozygous (Jain Foundation).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Genetic integration: Method=Transduction; Gene=MGI; MGI:88357; Cdk4.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Derived from site: In situ; Thigh, quadriceps skeletal muscle; UBERON=UBERON_0004498.
CC   Cell type: Myoblast; CL=CL_0000056.
DI   NCIt; C142080; Limb-girdle muscular dystrophy type 2B
DI   ORDO; Orphanet_268; Dysferlin-related limb-girdle muscular dystrophy R2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   29Y
CA   Telomerase immortalized cell line
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 11
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