ID   HPS3214
AC   CVCL_D0ZC
DR   RCB; HPS3214
DR   Wikidata; Q123032558
CC   Sequence variation: Mutation; HGNC; 2211; COL6A1; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS3214).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126688; Bethlem myopathy 1
DI   ORDO; Orphanet_610; Bethlem myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D0Z7 ! HPS3209
OI   CVCL_D0Z8 ! HPS3210
OI   CVCL_D0Z9 ! HPS3211
OI   CVCL_D0ZA ! HPS3212
OI   CVCL_D0ZB ! HPS3213
SX   Male
AG   20-29Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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