ID   MDCi233-A
AC   CVCL_B5J0
DR   BioSamples; SAMEA9422207
DR   hPSCreg; MDCi233-A
DR   Wikidata; Q110433024
CC   From: Max Delbruck Center Berlin Buch; Berlin; Germany.
CC   Sequence variation: Mutation; HGNC; 3097; DYSF; Simple; p.Leu369Pro (c.1106T>C); Zygosity=Heterozygous (hPSCreg=MDCi233-A).
CC   Sequence variation: Mutation; HGNC; 3097; DYSF; Simple; p.Arg1768_Pro1776del (c.5302_5328delCGGCCCCTCTACAGCCCCCTGCAGCCA); Zygosity=Heterozygous (hPSCreg=MDCi233-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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)
OI   CVCL_B5J1 ! MDCi233-B
SX   Male
AG   30-34Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
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