ID   NIMHi008-A
AC   CVCL_D0K7
SY   NphyiALS1
DR   BioSamples; SAMEA114007117
DR   hPSCreg; NIMHi008-A
DR   Wikidata; Q123033189
CC   From: National Institute of Mental Health and Neurosciences; Bengaluru; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:15710; LDB3; Simple; p.Ala485Ser (c.1453G>T); ClinVar=VCV000045519; Zygosity=Heterozygous (hPSCreg=NIMHi008-A).
CC   Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C34373; Amyotrophic lateral sclerosis
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   62Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
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