ID   IBBISTi003-D
AC   CVCL_A5FN
SY   2041 clone 19
DR   hPSCreg; IBBISTi003-D
DR   Wikidata; Q107115411
CC   From: Simao Jose Teixeira da Rocha; Porto Salvo; Portugal.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1101; BRCA2; Unexplicit; c.156_157insAlu; ClinVar=VCV000126018; Zygosity=Heterozygous (from autologous cell lines IBBISTi003-A, IBBISTi003-B and IBBISTi003-C).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C36101; BRCA2-associated hereditary breast and ovarian cancer syndrome
DI   ORDO; Orphanet_145; Hereditary breast and ovarian cancer syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A5FK ! IBBISTi003-A
OI   CVCL_A5FL ! IBBISTi003-B
OI   CVCL_A5FM ! IBBISTi003-C
SX   Female
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 05-10-23; Version: 7
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