ID   UKBi015-A-6
AC   CVCL_E8WL
SY   iLB-C16bm-s6 edit BAG3 E2
DR   BioSamples; SAMEA115753180
DR   hPSCreg; UKBi015-A-6
CC   From: Institut fur Rekonstruktive Neurobiologie, University Clinic of Bonn; Bonn; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:939; BAG3; Simple_edited; p.Pro209Leu (c.626C>T); ClinVar=VCV000005981; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (hPSCreg=UKBi015-A-6).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C217088; Myofibrillar myopathy 6
DI   ORDO; Orphanet_199340; Muscular dystrophy, Selcen type
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A9Q8 ! UKBi015-A
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 14-08-25; Last updated: 14-08-25; Version: 1
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